Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family Boris P. SokolovAlexander N. PrytkovDarwin J. Prockop Original Investigations Pages: 125 - 129
Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages Luigi D. NotarangeloOrnella ParoliniAlberto G. Ugazio Original Investigations Pages: 130 - 134
Identification of twelve new RFLP-markers on chromosome 22q11-qter Elisabeth CarlbomNoriaki SugawaMagnus Nordenskjöld Original Investigations Pages: 135 - 138
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base S. MarzukiA. S. NoerE. Byrne Original Investigations Pages: 139 - 145
Inheritance of ribosomal gene activity and level of DNA methylation of individual gene clusters in a three generation family A. de CapoaC. AleixandreD. A. Miller Original Investigations Pages: 146 - 152
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene Danièle HentzenAnna PeletArnold Munnich Original Investigations Pages: 153 - 156
Multipoint linkage analysis in X-linked Alport syndrome Jens Michael HertzTorben A. KruseEdwin S. Spencer Original Investigations Pages: 157 - 161
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type A. A. B. BergenC. SamannsE. M. Bleeker-Wagemakers Original Investigations Pages: 162 - 166
Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21 Jean-Louis BlouinAlain AuriasPierre-Marie Sinet Original Investigations Pages: 167 - 174
Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis K. M. SummersK. S. TamL. W. Powell Original Investigations Pages: 175 - 178
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies Mireille ClaustresSylvie TufferyJacques Demaille Original Investigations Pages: 179 - 184
Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1 Xavier EstivillConxi LázaroAnna Ravella Original Investigations Pages: 185 - 188
High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers David F. BarkerPamela R. FainCurtis L. Atkin Original Investigations Pages: 189 - 194
Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy Katharine M. D. BushbyNicola J. CleghornShomi S. Bhattacharya Original Investigations Pages: 195 - 199
Human NK-2 receptor gene maps to chromosome region 10q11–21 John E. N. MortenBrian HopkinsAlexander Graham Original Investigations Pages: 200 - 203
Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas Frans Graadt van RoggenDeneys R. van der WesthuyzenGerhard A. Coetzee Original Investigations Pages: 204 - 208
Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus Inderjeet DokalDeirdre LordTimothy Cox Original Investigations Pages: 209 - 214
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2 Jessica E. HoogendijkGerard W. HenselsPieter A. Bolhuis Original Investigations Pages: 215 - 218
Genomic structure and expression of human guanosine monophosphate reductase Tatsuro KondohHitoshi KannoAkira Yoshida Original Investigations Pages: 219 - 224
Identification of common variant alleles of the human guanosine monophosphate reductase gene Tatsuro KondohHitoshi KannoAkira Yoshida Short Communications Pages: 225 - 227
Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28 V. BiancalanaB. Le MarecA. Hanauer Short Communications Pages: 228 - 230
An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema Z. SiddiqueA. R. McPhadenK. Whaley Short Communications Pages: 231 - 232
A specific point mutation in the mitochondrial genome of Caucasians with MELAS C. EnterJ. Müller-HöckerK. -D. Gerbitz Short Communications Pages: 233 - 236
Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS Luigi D. NotarangeloOrnella ParoliniAlberto G. Ugazio Clinical Case Report Pages: 237 - 241
Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D Jay H. Robbins Letter to the Editors Pages: 242 - 242
