Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: Genotype-phenotype correlation

Clinical Genetics

Volumn 59, Issue 6, 2001, Pages 444-450

  Pepe, Guglielmina ^a,b   Giusti, B ^a   Evangelisti, L ^a   Porciani, M C ^a   Brunelli, T ^a   Giurlani, L ^a   Attanasio, M ^a   Fattori, R ^c   Bagni, C ^b   Comeglio, P ^a   Abbate, R ^a   Gensini, G F ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Aortic aneurysm; Fibrilin 1 gene; Frameshift mutations; Marfan syndrome; MASS

Indexed keywords

CALCIUM; EPIDERMAL GROWTH FACTOR RECEPTOR; FIBRILLIN; MESSENGER RNA;

ABDOMINAL AORTA ANEURYSM; ADULT; ARTICLE; BINDING SITE; CALCIUM BINDING; CARDIOVASCULAR SYSTEM; CASE REPORT; DISEASE SEVERITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; ITALY; MALE; MARFAN SYNDROME; MEDICAL LITERATURE; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SKELETON; STOP CODON; SYSTEMIC DISEASE; THORACIC AORTA ANEURYSM;

ADULT; DNA; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; MALE; MARFAN SYNDROME; MASS SCREENING; MICROFILAMENT PROTEINS; MUTAGENESIS, INSERTIONAL; PHENOTYPE; POLYMORPHISM, GENETIC; RNA, MESSENGER;

EID: 0034949796     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590610.x     Document Type: Article

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