Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly F. R. VargasE. RoesslerM. Muenke Original investigation Pages: 387 - 392
Analysis of HLA-DQ α sequences for prenatal diagnosis in single fetal cells from maternal blood A. SekizawaAtsushi TaguchiTakeshi Sato Original investigation Pages: 393 - 396
Telomeric length and telomerase activity vary with age in peripheral blood cells obtained from normal individuals Hiroshi IwamaK. OhyashikiJerry W. Shay Original investigation Pages: 397 - 402
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5 Y. EjimaMasao S. Sasaki Original investigation Pages: 403 - 408
Common fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecin I. SbranaPatrizia ZavattariAntonio Musio Original investigation Pages: 409 - 414
Interplay between humans and infective agents: a population genetic study C. FischerBrigitte JockFriedrich Vogel Original investigation Pages: 415 - 422
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene Barbara BurwinkelLluis AmatM. W. Kilimann Original investigation Pages: 423 - 429
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia S. KureHanna MandelKuniaki Narisawa Original investigation Pages: 430 - 434
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome Toshio ItohT. TanakaYusuke Nakamura Original investigation Pages: 435 - 439
Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations K. GrønskovAnni HallbergKaren Brøndum-Nielsen Original investigation Pages: 440 - 445
Molecular analysis of the chromosomal equipment in spermatoza of a 46, XY, t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridization S. MercierF. MorelJ. L. Bresson Original investigation Pages: 446 - 451
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I M. SchwartzErnst ChristensenNiels Jacob Brandt Original investigation Pages: 452 - 458
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation M. Gomez-LiraChiara PerusiAlessandro Salviati Original investigation Pages: 459 - 463
Three novel KCNA1 mutations in episodic ataxia type I families H. SchefferE. R. P. BruntC. H. C. M. Buys Original investigation Pages: 464 - 466
The genetic basis of Cowden’s syndrome: three novel mutations in PTEN/MMAC1/TEP1 H. C. TsouXiao Li PingM. Peacocke Original investigation Pages: 467 - 473
Mutational analysis of the GDNF/RET-GDNFRα signaling complex in a kindred with vesicoureteral reflux Sarah E. ShefelbineSangeeta KhoranaR. F. Gagel Original investigation Pages: 474 - 478
High frequency of polymorphism but no mutations found in the GLUT1 glucose transporter gene in NIDDM and familial obesity by SSCP analysis M. G. BaroniM. Pina D’AndreaPaolo Pozzilli Original investigation Pages: 479 - 482
Mutational analysis of the CCR5 and CXCR4 genes (HIV-1 co-receptors) in resistance to HIV-1 infection and AIDS development among intravenous drug users V. AlvarezCarlos López-LarreaEliecer Coto Original investigation Pages: 483 - 486
UBE3A“mutations” in two unrelated and phenotypically different Angelman syndrome patients David C. Y. FungBing YuR. J. Trent Original investigation Pages: 487 - 492
Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q Su-ying XuThomas RosenbergA. Gal Rapid communication Pages: 493 - 494
Gene symbol: COL11A1 Disease: Marshall Syndrome M. H. MeislerA. J. GriffithL. K. Sprunger Human gene mutations Pages: 498 - 498