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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/1994/volume_3
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_7/m/print http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_7/m/web
Date Copyrighted	1994
Rights	© 1994 Oxford University Press
issue	7
is Is Part Of of	Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration Dinucleotide repeat polymorphism at the D6S510 locus Dinucleotide repeat polymorphism at D1S556 Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome Characterisation of inherited and sporadic mutations in neurofibromatosis type-1 Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala→Val) and X (334Ser→ Pro) Author index Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system Dinucleotide repeat polymorphism in the TGFB2 gene Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22 New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse Analysis of the mouse and rat CFTR promoter regions Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene Xhol and Sphl RFLPs in the GALNS gene A trinucleotide repeat polymorphism in XT00444 (D13S635E) A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplex A novel transmembrane transporter encoded by the XPCT gene in Xq13.2 Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene Polymorphism in exon M7 of the PTHR gene Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII) Identification of a novel germline mutation in a FAP family Identification of the L927P and ΔL1260 mutations in the CFTR gene Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia Maternal anticipation of DRPLA A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis Three dinucleotide repeat polymorphisms closely linked to the RET protooncogene D10S1098, D10S1099 and D10S1100 CORRIGENDUM Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene Polymorphism in the GALNS gene Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41 Cloning and characterization of the human choroideremia gene Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E, α subunit gene Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency Localization of the gene whose mutations underlie Hailey—Hailey disease to chromosome 3q Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys→Phe substitution in the second zinc finger of the androgen receptor Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16 A novel donor splice site mutation associated with two mRNAs in von Hippel — Lindau disease Tetranucleotide repeat polymorphism at the D8S639 locus

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