The contribution of polymorphism in the alcohol dehydrogenase β subunit to alcohol sensitivity in a Japanese population Tatsuya TakeshitaXiao-Quan MaoKanehisa Morimoto Original Investigation Pages: 409 - 413
Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization Giuseppe CalabreseRita MingarelliBruno Dallapiccola Original Investigation Pages: 414 - 417
Genetic analysis of twenty-two patients with Cockayne syndrome Miria StefaniniHeather FawcettAlan R. Lehmann Original Investigation Pages: 418 - 423
Mutations of theBtk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan Shigetoshi KobayashiTsutomu IwataYasuhide Hayashi Original Investigation Pages: 424 - 430
Polymorphisms of ethanol-oxidizing enzymes in alcoholics with inactive ALDH2 Susumu HiguchiTaro MuramatsuMotoi Hayashida Original Investigation Pages: 431 - 434
A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement Hiroko SodaShigenori YukizaneHirohisa Kato Original Investigation Pages: 435 - 437
SSCP analysis of the tyrosine kinase domain of the insulin receptor gene: Polymorphisms detected in South African black and white subjects Vanessa R. PanzPaul RuffHarold C. Seftel Original Investigation Pages: 438 - 440
Identification and characterization of three genes and two pseudogenes on chromosome 13 Maria de Fatima BonaldoPierre JelencMarcelo Bento Soares Original Investigation Pages: 441 - 452
An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite Nenad BukvicFrancesco SuscaGinevra Guanti Original Investigation Pages: 453 - 456
Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type Yu-Lin KoJin-Jer ChenChoong-Chin Liew Original Investigation Pages: 457 - 461
Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map Tamilla NechiporukAlex NechiporukStefan M. Pulst Original Investigation Pages: 462 - 467
Novel trinucleotide deletion in Fabry's disease Marios A. CariolouMichael ChristodoulidesDionysios Tsambaos Original Investigation Pages: 468 - 470
Activation status of the X chromosome in human micronucleated lymphocytes James D. TuckerJoginder NathJohn C. Hando Original Investigation Pages: 471 - 475
Allelic association of microsatellites of 6p in Italian hemochromatosis patients C. CamaschellaA. RoettoE. Rappaport Original Investigation Pages: 476 - 481
A novel (TA)n polymorphism in the hexokinase II gene: Application to noninsulin-dependent diabetes mellitus in the Pima Indians Hossein ArdehaliGeorge E. TillerDaryl K. Granner Original Investigation Pages: 482 - 485
A solitary human H3 histone gene on chromosome 1 Werner AlbigJens EbentheuerDetlef Doenecke Original Investigation Pages: 486 - 491
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: Identification of three novel mutations and of two new polymorphisms Paolo GaspariniLeonardo D'AgrumaLeopoldo Zelante Original Investigation Pages: 492 - 495
Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype Hiroyuki TsunodaToshio OhshimaFrank Martiniuk Original Investigation Pages: 496 - 499
No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers Roelof-Jan OostraStephan KempElisabeth M. Sleeker-Wagemakers Original Investigation Pages: 500 - 505
Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: Evidence for a defect in gonadal ridge development John S. FuquaEllen S. SherGary D. Berkovitz Original Investigation Pages: 506 - 511
Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome Etienne MornetCorinne ChateauJean-Louis Serre Original Investigation Pages: 512 - 515
Proportion of the GSTM 10/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases V. S. BaranovT. IvaschenkoL. Kovaleva Original Investigation Pages: 516 - 520
Alternative splicing of dystrophin exon 4 in normal human muscle Silvia TorelliFrancesco Muntoni Original Investigation Pages: 521 - 523
Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q Joan E. PellegrinoRhonda E. SchnurElaine H. Zackai Original Investigation Pages: 532 - 536
A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis J. Ramón BilbaoLiliane LoridanLuis Castaño Original Investigation Pages: 537 - 539
Congenital alacrima in a patient with G (Opitz Frias) syndrome Munis DundarKuddusi ErkiliçAhmet Kazez Original Investigation Pages: 540 - 542
A polymorphism but no mutations in the GADD45 gene in breast cancers H. BlaszykA. HartmannJ. S. Kovach Rapid Communication Pages: 543 - 547
Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype P. JézéquelB. ChauvelM. Blayau Letter to the Editors Pages: 548 - 549
Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan S. KobayashiTsutomu IwataYasuhide Hayashi Original investigation Pages: 424 - 430
