A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b 558 in atypical X-linked chronic granulomatous disease Masahiko TsudaMizuho KanedaKatsuko Kakinuma Rapid communication Pages: 377 - 381
Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene V. M. ParkKathleen A. KenwrightEnikö 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 GuipponiHamish S. ScottStylianos 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 RichardThomas W. WhiteS. 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 ZlotogorskiWasim AhmadA. M. Christiano Rapid communication Pages: 400 - 404
In vivo somatic mutations in Werner’s syndrome S. KyoizumiYoichiro KusunokiMakoto Goto Original investigation Pages: 405 - 410
Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger J. E. TuckerR. J. WinkfeinP. P. M. Schnetkamp Original investigation Pages: 411 - 414
Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene Naokazu InoueToshiyuki SaitoH. 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 IwataHiroyuki NunoiY. 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 LeroyDimitri AnastasopoulosM. H. Polymeropoulos Original investigation Pages: 424 - 427
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients M. C. RosatelliAlessandra MeloniGroup 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. KomakiMichifumi KohnoIchiro Matsuda Original investigation Pages: 435 - 440
Pigmentary mosaicism in hypomelanosis of Ito B. FritzW. KüsterHelga Rehder Original investigation Pages: 441 - 449
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency Wilfried KuglerKathrin BremeM. Lakomek Original investigation Pages: 450 - 454
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity T. RazTim BarrettN. 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 FujimaruA. TanakaGen Isshiki Original investigation Pages: 462 - 469
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family Tomoaki OhataA. KoizumiGoro Takada Original investigation Pages: 470 - 474
Familial clustering of rheumatoid arthritis with other autoimmune diseases Jing-Ping LinJoseph M. CashRonald 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 GreenhamMark AdamsS. Mole Original investigation Pages: 483 - 487
Examination of the X chromosome by STS-PCR screening for the presence of submicroscopic deletions Mary BrenanJ. 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. IharaRyuichi KuromaruToshiro 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. CourtensDominique GrossmanFrank Speleman Original investigation Pages: 497 - 505
The molecular basis of C6 deficiency in the western Cape, South Africa M. J. HobartB. A. FernieA. Orren Original investigation Pages: 506 - 512
Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes B. A. FernieM. J. Hobart Original Investigation Pages: 513 - 519
Screening with the FMR1 protein test among mentally retarded males B. B. A. de VriesSerieta MohkamsingRob Willemsen Original investigation Pages: 520 - 522
Chromosomal mapping of three human LAMMER protein-kinase-encoding genes Catherine B. TalmadgeScott FinkernagelL. Rabinow Original investigation Pages: 523 - 524
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs Wafa’a M. EyaidMark V. CloughI. McIntosh Short report Pages: 525 - 526
Functional analysis of the C(–188)A polymorphism of the human leptin promoter L. OksanenJ. J. PalvimoK. 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 GiwercmanAndrej NikoshkovA. Wedell Short report Pages: 529 - 431