Volume 103, Issue 4

Search all Human Genetics articles

November 1998

30 articles in this issue

A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b ₅₅₈ in atypical X-linked chronic granulomatous disease
Masahiko Tsuda
Mizuho Kaneda
Katsuko Kakinuma
Rapid communication Pages: 377 - 381
Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene
V. M. Park
Kathleen A. Kenwright
Enikö Kármán Pivnick
Rapid communication Pages: 382 - 385
Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence
Michel Guipponi
Hamish S. Scott
Stylianos E. Antonarakis
Rapid communication Pages: 386 - 392
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
Gabriela Richard
Thomas W. White
S. J. Bale
Rapid Communication Pages: 393 - 399
Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene
Abraham Zlotogorski
Wasim Ahmad
A. M. Christiano
Rapid communication Pages: 400 - 404
In vivo somatic mutations in Werner’s syndrome
S. Kyoizumi
Yoichiro Kusunoki
Makoto Goto
Original investigation Pages: 405 - 410
Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger
J. E. Tucker
R. J. Winkfein
P. P. M. Schnetkamp
Original investigation Pages: 411 - 414
Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene
Naokazu Inoue
Toshiyuki Saito
H. Sakiyama
Original investigation Pages: 415 - 418
Drug-selected complete restoration of superoxide generation in Epstein-Barr virus-transformed B cells from p47^phox-deficient chronic granulomatous disease patients by using a bicistronic retrovirus vector encoding a human multi-drug resistance gene (MDR1) and the p47^phox gene
Mayumi Iwata
Hiroyuki Nunoi
Y. Sugimoto
Original investigation Pages: 419 - 423
Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson’s disease
Elisabeth Leroy
Dimitri Anastasopoulos
M. H. Polymeropoulos
Original investigation Pages: 424 - 427
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
M. C. Rosatelli
Alessandra Meloni
Group 1: Maria Cristina Rosatelli · Alessandra Meloni Antonella Meloni · Marcella Devoto · Antonio Cao Group 2: Hamish S. Scott · Pärt Peterson Maarit Heino · Kai J. E. Krohn · Kentaro Nagamine Jun Kudoh · Nobuyoshi Shimizu Stylianos E. Antonarakis
Original investigation Pages: 428 - 434
The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity: an analytical evaluation
S. Komaki
Michifumi Kohno
Ichiro Matsuda
Original investigation Pages: 435 - 440
Pigmentary mosaicism in hypomelanosis of Ito
B. Fritz
W. Küster
Helga Rehder
Original investigation Pages: 441 - 449
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency
Wilfried Kugler
Kathrin Breme
M. Lakomek
Original investigation Pages: 450 - 454
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity
T. Raz
Tim Barrett
N. Cohen
Original investigation Pages: 455 - 461
Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3’-splice site selection and cause Sandhoff disease
Mutsuko Fujimaru
A. Tanaka
Gen Isshiki
Original investigation Pages: 462 - 469
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family
Tomoaki Ohata
A. Koizumi
Goro Takada
Original investigation Pages: 470 - 474
Familial clustering of rheumatoid arthritis with other autoimmune diseases
Jing-Ping Lin
Joseph M. Cash
Ronald L. Wilder
Original investigation Pages: 475 - 482
Elucidation of the exon-intron structure and size of the human protein kinase C beta gene (PRKCB)
Jaimie Greenham
Mark Adams
S. Mole
Original investigation Pages: 483 - 487
Examination of the X chromosome by STS-PCR screening for the presence of submicroscopic deletions
Mary Brenan
J. Flint
Original investigation Pages: 488 - 492
Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib
K. Ihara
Ryuichi Kuromaru
Toshiro Hara
Original investigation Pages: 493 - 496
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion
W. Courtens
Dominique Grossman
Frank Speleman
Original investigation Pages: 497 - 505
The molecular basis of C6 deficiency in the western Cape, South Africa
M. J. Hobart
B. A. Fernie
A. Orren
Original investigation Pages: 506 - 512
Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes
B. A. Fernie
M. J. Hobart
Original Investigation Pages: 513 - 519
Screening with the FMR1 protein test among mentally retarded males
B. B. A. de Vries
Serieta Mohkamsing
Rob Willemsen
Original investigation Pages: 520 - 522
Chromosomal mapping of three human LAMMER protein-kinase-encoding genes
Catherine B. Talmadge
Scott Finkernagel
L. Rabinow
Original investigation Pages: 523 - 524
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs
Wafa’a M. Eyaid
Mark V. Clough
I. McIntosh
Short report Pages: 525 - 526
Functional analysis of the C(–188)A polymorphism of the human leptin promoter
L. Oksanen
J. J. Palvimo
K. Kontula
Short report Pages: 527 - 528
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome
Yvonne Lundberg Giwercman
Andrej Nikoshkov
A. Wedell
Short report Pages: 529 - 431
Erratum: Hum Genet (1998) 103 : 96–101
Pages: 532 - 532

Volume 103, Issue 4

A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b ₅₅₈ in atypical X-linked chronic granulomatous disease

Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene

In vivo somatic mutations in Werner’s syndrome

Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger

Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene

Drug-selected complete restoration of superoxide generation in Epstein-Barr virus-transformed B cells from p47^phox-deficient chronic granulomatous disease patients by using a bicistronic retrovirus vector encoding a human multi-drug resistance gene (MDR1) and the p47^phox gene

Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson’s disease

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity: an analytical evaluation

Pigmentary mosaicism in hypomelanosis of Ito

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3’-splice site selection and cause Sandhoff disease

Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family

Familial clustering of rheumatoid arthritis with other autoimmune diseases

Elucidation of the exon-intron structure and size of the human protein kinase C beta gene (PRKCB)

Examination of the X chromosome by STS-PCR screening for the presence of submicroscopic deletions

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

The molecular basis of C6 deficiency in the western Cape, South Africa

Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes

Screening with the FMR1 protein test among mentally retarded males

Chromosomal mapping of three human LAMMER protein-kinase-encoding genes

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs

Functional analysis of the C(–188)A polymorphism of the human leptin promoter

Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome

Erratum: Hum Genet (1998) 103 : 96–101

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