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Titolo:
A NOVEL MISSENSE MUTATION (C522Y) IS PRESENT IN THE BETA-HEXOSAMINIDASE BETA-SUBUNIT GENE OF A JAPANESE PATIENT WITH INFANTILE SANDHOFF DISEASE
Autore:
KUROKI Y; ITOH K; NADAOKA Y; TANAKA T; SAKURABA H;
Indirizzi:
TOKYO METROPOLITAN INST MED SCI,DEPT CLIN GENET,BUNKYO KU TOKYO 113 JAPAN TOKYO METROPOLITAN INST MED SCI,DEPT CLIN GENET,BUNKYO KU TOKYO 113 JAPAN TOKYO METROPOLITAN INST MED SCI,CTR COMP,BUNKYO KU TOKYO 113 JAPAN
Titolo Testata:
Biochemical and biophysical research communications
fascicolo: 2, volume: 212, anno: 1995,
pagine: 564 - 571
SICI:
0006-291X(1995)212:2<564:ANMM(I>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
EXTENSIVE HOMOLOGY; PRENATAL-DIAGNOSIS; HEXB GENE; SEQUENCE; CHAIN; FORM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
Y. Kuroki et al., "A NOVEL MISSENSE MUTATION (C522Y) IS PRESENT IN THE BETA-HEXOSAMINIDASE BETA-SUBUNIT GENE OF A JAPANESE PATIENT WITH INFANTILE SANDHOFF DISEASE", Biochemical and biophysical research communications, 212(2), 1995, pp. 564-571

Abstract

A novel missense mutation ((1565)G-->A) was identified in the cDNA and genomic DNA coding for the beta-hexosaminidase beta-subunit of a Japanese patient with infantile Sandhoff disease. The patient was homozygous for this mutation, which should result in a cysteine-to-tyrosine substitution at codon 522. Computer-assisted analysis of this amino acid substitution predicted alteration in the secondary structure in the region of a highly conserved sequence. An immunofluorescence study revealed the accumulation of GM2 ganglioside in cultured fibroblasts fromthe patient with this mutation. (C) 1995 Academic Press, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 12:45:38