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Titolo:
MUTATION SCREENING OF COMPLETE FIBRILLIN-1 CODING SEQUENCE - REPORT OF 5 NEW MUTATIONS, INCLUDING 2 IN 8-CYSTEINE DOMAINS
Autore:
TYNAN K; COMEAU K; PEARSON M; WILGENBUS P; LEVITT D; GASNER C; BERG MA; MILLER DC; FRANCKE U;
Indirizzi:
STANFORD UNIV,MED CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT CARDIOVASC SURG STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT GENET STANFORD CA 94305 STANFORD UNIV,MED CTR,MARFAN SYNDROME CLIN STANFORD CA 94305
Titolo Testata:
Human molecular genetics
fascicolo: 11, volume: 2, anno: 1993,
pagine: 1813 - 1821
SICI:
0964-6906(1993)2:11<1813:MSOCFC>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
MARFAN-SYNDROME; MICROFIBRILLAR ABNORMALITIES; OSTEOGENESIS IMPERFECTA; GENE; CHROMOSOME-15; POLYMORPHISM; DIAGNOSIS; PHENOTYPE; LINKAGE; FAMILY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
42
Recensione:
Indirizzi per estratti:
Citazione:
K. Tynan et al., "MUTATION SCREENING OF COMPLETE FIBRILLIN-1 CODING SEQUENCE - REPORT OF 5 NEW MUTATIONS, INCLUDING 2 IN 8-CYSTEINE DOMAINS", Human molecular genetics, 2(11), 1993, pp. 1813-1821

Abstract

Marfan syndrome (MFS) is an autosomal dominantly inherited connectivetissue disorder characterized by cardiovascular, ocular and skeletal manifestations. Previously, mutations in the fibrillin-1 gene on chromosome 15 (FBN1) have been reported to cause MFS. We have now screened 44 probands with MFS or related phenotypes for alterations in the entire fibrillin coding sequence (9.3 kb) by single strand conformation analysis. We report four unique mutations in the fibrillin gene of unrelated MFS patients. One is a 17 bp deletion and three are missense mutations, two of which involve 8-cysteine motifs. Another missense mutation was found in two unrelated individuals with annuloaortic ectasia but was also present in unaffected relatives and controls from various ethnic backgrounds. By using allele-specific oligonucleotide hybridization, we screened 65 unrelated MFS patients, 29 patients with related phenotypes and 84 control individuals for these mutations as well as fora previously reported mutation and two polymorphisms. Our results suggest that most MFS families carry unique mutations and that the fibrillin genotype is not the sole determinant of the connective tissue phenotype.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 12:47:33