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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_12/m/print http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_12/m/web
Date Copyrighted	1994
Rights	© 1994 Oxford University Press
issue	12
is Is Part Of of	Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia Taql polymorphism of the human MXI1 gene A YAC clone map spanning 7.5 megabases of human chromosome band Xq28 X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene Author Index A polymorphic dinucleotide repeat in the second intron of HUMCLC Spectrum of small length germline mutations in the RB1 gene Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population Hinfl polymorphism detected by FAEES3 cDNA Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3 Dinucleotide repeat polymorphism adjacent to CDKN2 Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (- 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation AnEcoRI RFLP in human phenol sulfotransferase genes Author index Subject Index Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT) DGGE polymorphism in intron 10 of MSH2, the HNPCC gene A multimegabase cluster of snRNA and tRNA genes on chromosome 1p36 harbours an adenovirus/SV40 hybrid virus integration site A polymorphic dinucleotide repeat at the human HLA-F locus Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon Adhalin gene polymorphism DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence Somatic mutations of the von Hippel — Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment Dinucleotide repeat polymorphism at the human biglycan (BGN) locus A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13 Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition Identification of a polymorphism in exon 11 of the RET proto-oncogene Dinucleotide repeat polymorphism at the human TYRP1 locus Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix A dinucleotide repeat polymorphism in the MYBPH gene Tri- and tetranucleotide repeat polymorphism in the LIPA gene Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients REPORTS Genetic heterogeneity in familial malignant melanoma Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

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