Mutations in the NRG1 gene are associated with Hirschsprung disease

Human Genetics

Volumn 131, Issue 1, 2012, Pages 67-76

  Tang, Clara Sze Man ^a   Ngan, Elly Sau Wai ^a   Tang, Wai Kiu ^a   So, Man Ting ^a   Cheng, Guo ^a   Miao, Xiao Ping ^b   Leon, Thomas Yuk Yu ^a   Leung, Brian Man Chun ^a   Hui, Kenneth Jeremy W S ^a   Lui, Vincent Hang Chai ^a   Chen, Yan ^a   Chan, Ivy Hau Yee ^a   Chung, Patrick Ho Yu ^a   Liu, Xue Lai ^a   Wong, Kenneth Kak Yuen ^a   Sham, Pak Chung ^a   Cherny, Stacey S ^a   Tam, Paul Kwong Hang ^a   Garcia Barcelo, Maria Mercè ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

NEU DIFFERENTIATION FACTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; INTESTINE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; CASE-CONTROL STUDIES; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMANS; IMMUNOBLOTTING; IMMUNOENZYME TECHNIQUES; MALE; MUTATION; NEUREGULIN-1;

EID: 84856678164     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1035-4     Document Type: Article

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