Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe T. DörkM. Macek JrJ. Zielenski Original Investigation Pages: 259 - 268
SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome H.P. WilmoreM.J. SmithA.H. Sinclair Original Investigation Pages: 269 - 276
Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation A. IidaM. EmiY. Nakamura Original Investigation Pages: 277 - 287
Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population Y. OhnishiT. TanakaY. Nakamura Original Investigation Pages: 288 - 292
Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population R. YamadaT. TanakaY. Nakamura Original Investigation Pages: 293 - 297
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene ( ψ GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia M. TakayanagiS. KureK. Narisawa Original Investigation Pages: 298 - 305
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features M. AdachiK. TachibanaT. Ogata Original Investigation Pages: 306 - 310
Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients Katharina WimmerMarkus EckartChrista Fonatsch Original Investigation Pages: 311 - 313
Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain M. GuillénD. CorellaJ. Hernández-Yago Original Investigation Pages: 314 - 320
The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3 G. RichardN. BrownJ. Uitto Original Investigation Pages: 321 - 329
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations E. MornetJ.-F. Gibrat Original Investigation Pages: 330 - 339
Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21 F. MullerM. RebifféE. Mornet Original Investigation Pages: 340 - 344
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs N.J. PrescottM.M. LeesS. Malcolm Original Investigation Pages: 345 - 350
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22 A.R. AfzalA. RajabS. Jeffery Original Investigation Pages: 351 - 354
Segregation analysis of serum uric acid in the NHLBI Family Heart Study J.B. WilkL. DjousseR.H. Myers Original Investigation Pages: 355 - 359
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A) L. OrozcoR. VelázquezA. Carnevale Original Investigation Pages: 360 - 365
A fragile X case with an amplification/deletion mosaic pattern D. García ArocenaY. de DiegoM. Mirta Rodriguez Original Investigation Pages: 366 - 369
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection M. HuizingY. AniksterW.A. Gahl Short report Pages: 370 - 373
British Human Genetics Conference¶Including a One-Day Joint Symposium "Technologics in Genome Analysis" with the Genetical Society on Wednesday 13 September Announcement Pages: 383 - 383