Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
IDENTIFICATION OF 3 NOVEL MUTATIONS IN HUMAN EYA1 PROTEIN ASSOCIATED WITH BRANCHIOOTORENAL SYNDROME
Autore:
KUMAR S; KIMBERLING WJ; WESTON MD; SCHAEFER BG; BERG MA; MARRES HAM; CREMERS CWRJ;
Indirizzi:
BOYS TOWN NATL RES HOSP,DEPT GENET,CTR HEREDITARY & COMMUN DISORDERS,555 N 30TH ST OMAHA NE 68131 UNIV NEBRASKA,MED CTR,MUNROE MEYER INST,DEPT PEDIAT OMAHA NE 00000 STANFORD UNIV,MED CTR,DEPT PEDIAT & GENET STANFORD CA 94305 UNIV NIJMEGEN HOSP,DEPT OTORHINOLARYNGOL NL-6500 HB NIJMEGEN NETHERLANDS
Titolo Testata:
Human mutation
fascicolo: 6, volume: 11, anno: 1998,
pagine: 443 - 449
SICI:
1059-7794(1998)11:6<443:IO3NMI>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEARING-LOSS; CHROMOSOME 8Q; BOR SYNDROME; FISTULAS; DYSPLASIA; FAMILY; REGION; GENE;
Keywords:
BRANCHIOOTORENAL SYNDROME; MUTATION DETECTION; HETERODUPLEX ANALYSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
S. Kumar et al., "IDENTIFICATION OF 3 NOVEL MUTATIONS IN HUMAN EYA1 PROTEIN ASSOCIATED WITH BRANCHIOOTORENAL SYNDROME", Human mutation, 11(6), 1998, pp. 443-449

Abstract

The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutations in the EYA1 gene cause BOR syndrome are unknown. We have investigated 12 unrelated Caucasian families for mutations by heteroduplex analysis and direct sequencing of products from the polymerase chain reaction. In this study, we identified two novel frameshift deletions and a single base substitution that introduces a stop codon mutation in the C-terminal region of the EYA1 gene. No obvious relationships were observed between the nature of the mutations and the variable clinical features associated with BOR syndrome. (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 01:45:56