About: http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_5/w

Documentation

scienceplus.abes.fr version Bêta

scienceplus.abes.fr | explorer

À propos de : http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_5/w Goto Sponge NotDistinct Permalink

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_5/m/print http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_5/m/web
Date Copyrighted	1994
Rights	© Oxford University Press
issue	5
is Is Part Of of	Dinucleotide repeat polymorphisms near the KCNA6 and KCNAI loci Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes Dinucleotide repeat polymorphism at the D3S1255 locus New human DNA polymorphisms submitted to the genome data base Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p Germline mutations in the neurofibromatosis type 2 tumour suppressor gene Detection of a premutation in Japanese myotonic dystrophy SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1) Author index Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation SSCP/SacI polymorphism in the PAX5 gene (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein BLOCK-based PCR markers to find gene family members in human and comparative genome analysis Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins Fourteen new polymorphic dinucleotide repeats on human chromosome 3: D3S1432, D3S1433, D3S1434, D3S1483, D3S1484, D3S1485, D3S1486, D3S1487, D3S1488, D3S1489, D3S1490, D3S1496, D3S1497 and D3S1498 CORRIGENDUM Structural analysis of α-satellite DNA and centromere proteins using extended chromatin and chromosomes Dinucleotide repeat polymorphism at the D3S666 locus Identification of five novel mutations in the porphobilinogen deaminase gene A novel nuclear protein binds centromeric alpha satellite DNA A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21 A 2.8 Mb YAC contig in 11q12 - q13 localizes candidate genes for atopy: FcɛRIβ and CD20 Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene Angiotensin II (type-1) receptor locus: CA repeat polymorphism and genetic mapping Dinucleotide repeat polymorphism (D3S1776) on human chromosome 3p Dinucleotide repeat polymorphism at the NCAM locus Tetranucleotide repeat polymorphism at the D8S640 locus Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor Ten base pair duplication in exon 38 of the NF1 gene A gene for hereditary multiple exostoses maps to chromosome 19p Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21 Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2 De novo formation of several features of a centromere following introduction of a Y alphoid YAC into mammalian cells Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata