NOTCH2 mutations in Alagille syndrome

Journal of Medical Genetics

Volumn 49, Issue 2, 2012, Pages 138-144

  Kamath, Binita Maya ^a   Bauer, Robert C ^b   Loomes, Kathleen M ^c   Chao, Grace ^b   Gerfen, Jennifer ^b   Hutchinson, Anne ^b   Hardikar, Winita ^d   Hirschfield, Gideon ^e   Jara, Paloma ^f   Krantz, Ian D ^c   Lapunzina, Pablo ^f   Leonard, Laura ^b   Ling, Simon ^a   Ng, Vicky Lee ^a   Le Hoang, Phuc ^g   Piccoli, David A ^c   Spinner, Nancy Bettina ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY OF TORONTO   (Canada)

^f HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^g Department of Gastroenterology   (Viet Nam)

Author keywords

[No Author keywords available]

Indexed keywords

JAGGED1; NOTCH2 RECEPTOR;

ALAGILLE SYNDROME; ARTICLE; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SPLICING; EXON; EYE DISEASE; FACE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HUMAN; KIDNEY DISEASE; LIVER; LIVER DISEASE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROCESSING; SIGNAL TRANSDUCTION;

ALAGILLE SYNDROME; ANIMALS; CELL LINE; DNA MUTATIONAL ANALYSIS; FACIES; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; MICE; MUTATION; PHENOTYPE; RECEPTOR, NOTCH2; SIGNAL TRANSDUCTION;

EID: 84855991075     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100544     Document Type: Article

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