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Titolo:
CLUSTERING OF FBN2 MUTATIONS IN PATIENTS WITH CONGENITAL CONTRACTURALARACHNODACTYLY INDICATES AN IMPORTANT ROLE OF THE DOMAINS ENCODED BY EXONS 24 THROUGH 34 DURING HUMAN-DEVELOPMENT
Autore:
PARK ES; PUTNAM EA; CHITAYAT D; CHILD A; MILEWICZ DM;
Indirizzi:
UNIV TEXAS,SCH MED,DEPT INTERNAL MED,MSB 1-614,6431 FANNIN HOUSTON TX77030 UNIV TEXAS,SCH MED,DEPT INTERNAL MED HOUSTON TX 77030 HOSP SICK CHILDREN,DEPT MED GENET TORONTO ON M5G 1X8 CANADA UNIV LONDON ST GEORGES HOSP,SCH MED,DEPT CARDIOL SCI LONDON SW17 0RE ENGLAND
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 78, anno: 1998,
pagine: 350 - 355
SICI:
0148-7299(1998)78:4<350:COFMIP>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEONATAL MARFAN-SYNDROME; BETA-BINDING-PROTEIN; 2ND INTERNATIONAL-SYMPOSIUM; EXTRACELLULAR-MATRIX; FIBRILLIN GENE; COMPONENT; SEQUENCE;
Keywords:
CONGENITAL CONTRACTURAL ARACHNODACTYLY; MARFAN SYNDROME; FBN2; FBN1; FIBRILLIN; MICROFIBRILS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
E.S. Park et al., "CLUSTERING OF FBN2 MUTATIONS IN PATIENTS WITH CONGENITAL CONTRACTURALARACHNODACTYLY INDICATES AN IMPORTANT ROLE OF THE DOMAINS ENCODED BY EXONS 24 THROUGH 34 DURING HUMAN-DEVELOPMENT", American journal of medical genetics, 78(4), 1998, pp. 350-355

Abstract

Congenital contractural arachnodactyly (CCA) is an autosomal dominantcondition phenotypically related to Marfan syndrome (MFS), CCA is caused by mutations in FBN2, whereas MFS results from mutations in FBN1. FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutations, and FBN2 mutations were identified in six of these samples. All of the identified FBN2 mutations cluster in a limited region of the gene, a region where mutations in FBN1 produce the severe, congenital form of MFS (so-called neonatal MFS). Furthermore, three of the identified mutations occur in the FBN2 locations exactly corresponding to FBN1 mutations that have been reported in cases of neonatalMFS, These mutations indicate that this central region of both of thefibrillins plays a critical role in human embryogenesis. The limited region of FBN2 that can be mutated to cause CCA may also help to explain the rarity of CCA compared to MFS, (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/10/20 alle ore 04:26:59