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Titolo:
ASSOCIATION OF UNCONVENTIONAL MYOSIN MYO15 MUTATIONS WITH HUMAN NONSYNDROMIC DEAFNESS DFNB3
Autore:
WANG AH; LIANG Y; FRIDELL RA; PROBST FJ; WILCOX ER; TOUCHMAN JW; MORTON CC; MORELL RJ; NOBENTRAUTH K; CAMPER SA; FRIEDMAN TB;
Indirizzi:
NIDOCD,GENET MOL LAB,NIH ROCKVILLE MD 20850 NIDOCD,GENET MOL LAB,NIH ROCKVILLE MD 20850 MICHIGAN STATE UNIV,GRAD PROGRAM GENET E LANSING MI 48824 UNIV MICHIGAN,DEPT HUMAN GENET ANN ARBOR MI 48109 NIH,INTRAMURAL SEQUENCING CTR ROCKVILLE MD 20850 NIH,NATL HUMAN GENOME RES INST BETHESDA MD 20892 BRIGHAM & WOMENS HOSP,DEPT PATHOL BOSTON MA 02115 BRIGHAM & WOMENS HOSP,DEPT OBSTET GYNECOL & REPROD BIOL BOSTON MA 02115 HARVARD UNIV,SCH MED BOSTON MA 02115
Titolo Testata:
Science
fascicolo: 5368, volume: 280, anno: 1998,
pagine: 1447 - 1451
SICI:
0036-8075(1998)280:5368<1447:AOUMMM>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENE; MOUSE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
35
Recensione:
Indirizzi per estratti:
Citazione:
A.H. Wang et al., "ASSOCIATION OF UNCONVENTIONAL MYOSIN MYO15 MUTATIONS WITH HUMAN NONSYNDROMIC DEAFNESS DFNB3", Science, 280(5368), 1998, pp. 1447-1451

Abstract

DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2. A human unconventionalmyosin gene, MYO15, was identified by combining functional and positional cloning approaches in searching for shaker-2 and DFNB3. MYO15 hasat least 50 exons spanning 36 kilobases. Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregatedwith congenital recessive deafness.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 18:00:20