Major involvement of the cardiovascular system in patients affected by Marfan syndrome: Novel mutations in fibrillin 1 gene

Journal of Molecular and Cellular Cardiology

Volumn 29, Issue 7, 1997, Pages 1877-1884

  Pepe, Guglielmina ^a,b   Giusti, Betti ^a   Attanasio, Monica ^a   Comeglio, Paolo ^a   Porciani, Maria Cristina ^a   Giurlani, Letizia ^a   Montesi, Gian Franco ^c   Calamai, Gian Carlo ^c   Vaccari, Marino ^c   Favilli, Silvia ^c   Abbate, Rosanna ^a   Gensini, Gian Franco ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

Aortic aneurysm; Fibrillin 1 gene; Heteroduplex analysis; Marfan syndrome; Missense mutations; Sequence analysis

Indexed keywords

CYSTEINE; EPIDERMAL GROWTH FACTOR; FIBRILLIN; HETERODUPLEX;

ADULT; AMINO ACID SUBSTITUTION; AORTA; AORTA ANEURYSM; AORTA DISSECTION; ARTICLE; CARDIOVASCULAR SYSTEM; CASE REPORT; DISEASE SEVERITY; EARLY DIAGNOSIS; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEART; HUMAN; ITALY; MALE; MARFAN SYNDROME; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0031193680     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1006/jmcc.1997.0426     Document Type: Article

References (32)

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