Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis Yuichi MiuraMakoto HiuraYasuhiro Indo Original investigation Pages: 205 - 209
Linkage analysis with candidate genes: the Taiwan young-onset hypertension genetic study Wen-Harn PanJaw-Wen ChenSheng-Yeu Wu Original Investigation Pages: 210 - 215
Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments P. BoomsF. TieckeP. N. Robinson Original Investigation Pages: 216 - 224
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT) Roberto TonelliAnna Lisa ScardoviGuido Paolucci Original Investigation Pages: 225 - 233
Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome Julide Tok ÇelebiMolly WannerMonica Peacocke Original investigation Pages: 234 - 238
Association of ACE I/D polymorphism with cardiovascular risk factors K. UemuraJ. NakuraT. Miki Original Investigation Pages: 239 - 242
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene Sharon D. WhatleyAndrew G. RobertsGeorge H. Elder Original Investigation Pages: 243 - 248
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer Franziska KrämerKaren WhiteBernhard H. F. Weber Original Investigation Pages: 249 - 256
Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels H. RazzaghiC. E. AstonM. I. Kamboh Original Investigation Pages: 257 - 267
Fusion of 9 beta-satellite and telomere (TTAGGG)n sequences results in a jumping translocation K. S. ReddyT. Murphy Original Investigation Pages: 268 - 275
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition Sylvie GerberJean-Michel RozetJosseline Kaplan Original Investigation Pages: 276 - 284
Mutation analysis in glycogen storage disease type 1 non-a Andreas R. JaneckeMartin LindnerGerd Utermann Short Report Pages: 285 - 289
The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect Lisa SpirioJane GreenMark Leppert Erratum Pages: 294 - 294
