Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

Journal of Medical Genetics

Volumn 50, Issue 5, 2013, Pages 324-329

  Samuels, Mark E ^a   Majewski, Jacek ^b   Alirezaie, Najmeh ^b   Fernandez, Isabel ^a,c   Casals, Ferran ^a   Patey, Natalie ^a,c   Decaluwe, Hélène ^a,c   Gosselin, Isabelle ^d   Haddad, Elie ^a,c   Hodgkinson, Alan ^a   Idaghdour, Youssef ^a   Marchand, Valerie ^a,c   Michaud, Jacques L ^a,c   Rodrigue, Marc André ^d,e   Desjardins, Sylvie ^d   Dubois, Stéphane ^d   Le Deist, Francoise ^a,c   Awadalla, Philip ^a,c   Raymond, Vincent ^d,e   Maranda, Bruno ^f  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d LAVAL UNIVERSITY   (Canada)

^e UNIVERSITÉ LAVAL   (Canada)

^f UNIVERSITÉ DE SHERBROOKE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

TETRATRICOPEPTIDE REPEAT 7A PROTEIN; TETRATRICOPEPTIDE REPEAT PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HUMAN; INTESTINE ATRESIA; MISSENSE MUTATION; MULTIPLE INTESTINAL ATRESIA; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; ETHNIC GROUPS; EXOME; HOMOZYGOTE; HUMANS; INTESTINAL ATRESIA; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEINS; QUEBEC; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 84878878123     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101483     Document Type: Article

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