FBN1 mutation screening of patients with Marfan syndrome and related disorders: Detection of 46 novel FBN1 mutations

Clinical Genetics

Volumn 74, Issue 1, 2008, Pages 39-46

  Attanasio, Monica ^a,b   Lapini, I ^a   Evangelisti, L ^a   Lucarini, L ^a   Giusti, B ^a,b   Porciani, M C ^a,b   Fattori, R ^c   Anichini, C ^d   Abbate, R ^a,b   Gensini, G F ^a,b,e   Pepe, G ^a,b  

^a Center for the Study at Molecular and Clinical Level of Chronic   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF SIENA   (Italy)

^e IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

Author keywords

FBN1 mutations; Fibrillin; Fibrillinopathies; Marfan syndrome

Indexed keywords

CALCIUM BINDING PROTEIN; EPIDERMAL GROWTH FACTOR; FIBRILLIN 1;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; ECTOPIA LENTIS; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION;

EID: 45149125304     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01007.x     Document Type: Article

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