Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

European Journal of Human Genetics

Volumn 17, Issue 9, 2009, Pages 1121-1128

  Stheneur, Chantal ^a,b,c   Collod Béroud, Gwenaëlle ^c,d   Faivre, Laurence ^e   Buyck, Jean François ^a   Gouya, Laurent ^a,b,c,f   Le Parc, Jean Marie ^a,b,f   Moura, Bertrand ^a,b   Muti, Christine ^a,b   Grandchamp, Bernard ^b,c   Sultan, Gilles ^a,b   Claustres, Mireille ^c,d,g   Aegerter, Philippe ^a,f   Chevallier, Bertrand ^a,b,f   Jondeau, Guillaume ^b,c   Boileau, Catherine ^a,b,c,f  

^a HÔPITAL AMBROISE PARÉ   (France)

^b BICHAT HOSPITAL   (France)

^c INSERM   (France)

^d UNIV MONTPELLIER   (France)

^e DIJON UNIVERSITY HOSPITAL   (France)

^f LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^g MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1;

ARTICLE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MARFAN SYNDROME; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RNA SPLICING;

ADULT; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENE DUPLICATION; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; RISK FACTORS; RNA SPLICE SITES;

EID: 69249220259     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.36     Document Type: Article

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