The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome

European Journal of Human Genetics

Volumn 23, Issue 12, 2015, Pages 1657-1664

  Frank, Michael ^a,b   Albuisson, Juliette ^a,b,c   Ranque, Brigitte ^a,b,c   Golmard, Lisa ^a,c   Mazzella, Jean Michael ^a   Bal Theoleyre, Laurence ^d   Fauret, Anne Laure ^a,c   Mirault, Tristan ^a,c   Denarié, Nicolas ^a   Mousseaux, Elie ^a,c   Boutouyrie, Pierre ^a,b,c   Fiessinger, Jean Noël ^a,c   Emmerich, Joseph ^a,c   Messas, Emmanuel ^a,b,c   Jeunemaitre, Xavier ^a,b,c  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE; COL3A1 PROTEIN, HUMAN; COLLAGEN TYPE 3;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; COL3A1 GENE; DISEASE COURSE; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; GENE DELETION; GENE INSERTION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MARKER GENE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; VASCULAR EHLERS DANLOS SYNDROME; FEMALE; GENETICS; MALE; MIDDLE AGED; PATHOLOGY;

ADULT; COLLAGEN TYPE III; EHLERS-DANLOS SYNDROME; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE;

EID: 84948713587     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.32     Document Type: Article

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