The clinical presentation of marfan syndrome is modulated by expression of wild-type FBN1 allele

Human Molecular Genetics

Volumn 24, Issue 10, 2015, Pages 2764-2770

  Aubart, Mélodie ^a   Gross, Marie Sylvie ^a   Hanna, Nadine ^a,b   Zabot, Marie Thérèse ^c   Sznajder, Marc ^d   Detaint, Delphine ^a,b   Gouya, Laurent ^b   Jondeau, Guillaume ^a,b   Boileau, Catherine ^a,b   Stheneur, Chantal ^b  

^a Site Xavier Bichat and Département Hospitalo Universitaire Fibrosis Inflammation and Remodeling   (France)

^b BICHAT HOSPITAL   (France)

^c HOSPICES CIVILS DE LYON   (France)

^d HÔPITAL AMBROISE PARÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1; MESSENGER RNA; ACTIN BINDING PROTEIN; FIBRILLIN; STOP CODON;

ADULT; AGED; ALLELE; AORTA; AORTA DISSECTION; ARACHNODACTYLY; ARTICLE; CODON; CONTROLLED STUDY; DISEASE SEVERITY; ECTOPIA LENTIS; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MESSENGER RNA SYNTHESIS; PHENOTYPE; PNEUMOTHORAX; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; STRIA; ADOLESCENT; CHILD; GENE EXPRESSION PROFILING; GENETICS; INFANT; MIDDLE AGED; NEWBORN; PRESCHOOL CHILD; STOP CODON; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALLELES; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; ECTOPIA LENTIS; FEMALE; GENE EXPRESSION; GENE EXPRESSION PROFILING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; YOUNG ADULT;

EID: 84929759182     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv037     Document Type: Article

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