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Titolo:
A GENE FOR ARTHROGRYPOSIS MULITPLEX CONGENITA NEUROPATHIC TYPE IS LINKED TO D5S394 ON CHROMOSOME 5QTER
Autore:
SHOHAT M; LOTAN R; MAGAL N; SHOHAT T; FISCHELGHODSIAN N; ROTTER JI; JABER L;
Indirizzi:
RABIN MED CTR,MED GENET & FELSENSTEIN MED RES CTR,BEILINSON CAMPUS IL-49100 PETAH TIQWA ISRAEL TEL AVIV UNIV,SACKLER FAC MED IL-69978 TEL AVIV ISRAEL CEDARS SINAI MED CTR,CTR MED GENET BIRTH DEFECTS LOS ANGELES CA 90048 UNIV CALIF LOS ANGELES,SCH MED LOS ANGELES CA 90024
Titolo Testata:
American journal of human genetics
fascicolo: 5, volume: 61, anno: 1997,
pagine: 1139 - 1143
SICI:
0002-9297(1997)61:5<1139:AGFAMC>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLEX CONGENITA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
M. Shohat et al., "A GENE FOR ARTHROGRYPOSIS MULITPLEX CONGENITA NEUROPATHIC TYPE IS LINKED TO D5S394 ON CHROMOSOME 5QTER", American journal of human genetics, 61(5), 1997, pp. 1139-1143

Abstract

Arthrogryposis multiplex congenita (AMC) is a heterogeneous-symptom complex characterized by joint contractures at birth that involve more than one part of the body. We performed a genetic-linkage study of onelarge Israeli-Arab inbred kindred showing autosomal recessive inheritance of AMC neuropathic type that had been recently investigated by our group. After analysis of similar to 80% of the genome, D5S1456, which showed no increased homozygosity, showed increased genotype sharing in affected individuals. Linkage analysis in all family members revealed linkage between AMC and D5S1456 on chromosome 5qter (maximum LOD score 5.3 at recombination fraction .001). Analysis of additional markers in this region places the gene causing AMC in this family between D5S1456 and D5S498.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 09:15:57