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Titolo:
A SINGLE-BASE MUTATION IN EXON-31 CONVERTING GLYCINE-852 TO ARGININE IN THE COLLAGENOUS DOMAIN IN AN ALPORT SYNDROME PATIENT
Autore:
KAWAI S; NOMURA S; HARANO T; HARANO K; FUKUSHIMA T; WAGO M; SHIMIZU B; OSAWA G;
Indirizzi:
KAWASAKI MED UNIV,DEPT MED,DIV NEPHROL KURASHIKI OKAYAMA 70101 JAPAN HIROSHIMA UNIV,DEPT CHILD HLTH HIROSHIMA JAPAN KYORITSU HOSP,DEPT PEDIAT HIROSHIMA JAPAN KYORITSU HOSP,DEPT BIOCHEM HIROSHIMA JAPAN KYORITSU HOSP,DEPT MED,DIV NEPHROL HIROSHIMA JAPAN
Titolo Testata:
Nephron
fascicolo: 2, volume: 74, anno: 1996,
pagine: 333 - 336
SICI:
0028-2766(1996)74:2<333:ASMIEC>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
COL4A5 GENE; IV COLLAGEN; OSTEOGENESIS-IMPERFECTA; GEL-ELECTROPHORESIS; FAMILIAL NEPHRITIS; X-CHROMOSOME; CHAIN; IDENTIFICATION; SUBSTITUTION; MEMBRANES;
Keywords:
ALPORT SYNDROME; COL4A5 MUTATION, EXON 31; COLLAGENOUS DOMAIN; SINGLE-BASE MUTATION, EXON 31; SINGLE-STRAND CONFIRMATION POLYMORPHISMS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
29
Recensione:
Indirizzi per estratti:
Citazione:
S. Kawai et al., "A SINGLE-BASE MUTATION IN EXON-31 CONVERTING GLYCINE-852 TO ARGININE IN THE COLLAGENOUS DOMAIN IN AN ALPORT SYNDROME PATIENT", Nephron, 74(2), 1996, pp. 333-336

Abstract

In a family with Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the alpha 5(IV) chain of glomerular basement membrane collagen, revealed a GGA-->AGA change in exon 31, resulting in substitution of an arginine for a glycine in position 852 of the polypeptide chain, between interruptions 16 and 17 of the triple-helical collagenous domain. The mutation causes the MaeI restriction sites, and couldbe easily diagnosed in the family members through restriction analysis. This one point mutation can be expected to interrupt type IV collagen molecules.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 18:06:14