Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Human Mutation

Volumn 31, Issue 1, 2010, Pages

  Van Kien, Philippe Khau ^a   Baux, David ^a   Pallares Ruiz, Nathalie ^a   Baudoin, Corinne ^a   Plancke, Aurélie ^a   Chassaing, Nicolas ^b,c,d   Collignon, Patrick ^e   Drouin Garraud, Valérie ^f   Hovnanian, Alain ^b,c,d   Martin Coignard, Dominique ^g   Collod Béroud, Gwenaëlle ^c,h   Béroud, Christophe ^a,c,h   Roux, Anne Françoise ^a   Claustres, Mireille ^a,c,h  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

^b CHU PURPAN   (France)

^c INSERM   (France)

^d UNIVERSITÉ PAUL SABATIER   (France)

^e TIMONE HOSPITAL   (France)

^f ROUEN UNIVERSITY HOSPITAL   (France)

^g CENTRE HOSPITALIER DU MANS   (France)

^h UNIV MONTPELLIER   (France)

Author keywords

cb EGF like domain; Fibrillin 1 (FBN1) gene; Fibrillinopathies; Marfan syndrome

Indexed keywords

ALANINE; CALCIUM BINDING EPIDERMAL GROWTH FACTOR; EPIDERMAL GROWTH FACTOR RECEPTOR; FIBRILLIN 1; GLYCINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPARATIVE STUDY; COMPUTER ASSISTED TOMOGRAPHY; COMPUTER MODEL; ECTOPIA LENTIS; FEMALE; GENE; GENE SEGREGATION; GENETIC SCREENING; HUMAN; INHERITANCE; MALE; MARFAN SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAROXYSMAL SUPRAVENTRICULAR TACHYCARDIA; PREDICTOR VARIABLE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; SCHOOL CHILD; SCOLIOSIS; SEQUENCE ALIGNMENT; THREE DIMENSIONAL IMAGING;

ADOLESCENT; ADULT; AGED; CALCIUM; CHILD; EPIDERMAL GROWTH FACTOR; FEMALE; GLYCINE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 74049122789     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21131     Document Type: Article

References (21)

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