SM2PH-db: An interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases

Human Mutation

Volumn 31, Issue 2, 2010, Pages 127-135

  Friedrich, Anne ^a   Garnier, Nicolas ^b,d   Gagnière, Nicolas ^a   Nguyen, Hoan ^a   Albou, Laurent Philippe ^a   Biancalana, Valérie ^a   Bettler, Emmanuel ^b   Deléage, Gilbert ^b   Lecompte, Odile ^a   Muller, Jean ^a,e   Moras, Dino ^a   Mandel, Jean Louis ^a   Toursel, Thierry ^c   Moulinier, Luc ^a   Poch, Olivier ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b INSTITUT DE BIOLOGIE ET CHIMIE DES PROTÉINES   (France)

^c Association Francaise Contre les Myopathies   (France)

^d INDIAN INSTITUTE OF SCIENCE   (India)

^e EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

Author keywords

Genotype phenotype relationship; Human genetic disease; Mutation impact; SM2PH db; Structural homology model

Indexed keywords

PROTEIN;

ARTICLE; COMPUTER INTERFACE; GENE SEQUENCE; GENE STRUCTURE; GENETIC DISORDER; MISSENSE MUTATION; MOLECULAR EVOLUTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION;

EID: 75149179144     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21155     Document Type: Article

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