A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease

Journal of the Formosan Medical Association

Volumn 105, Issue 4, 2006, Pages 349-354

  Chen, Wen Chau ^a   Chang, Shen Shun ^a   Sy, Edgar D ^a   Tsai, Ming Che ^a  

^a NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

Author keywords

EDNRB gene; Hirschsprung disease; Taiwanese

Indexed keywords

ARGININE; CYSTEINE; ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; G PROTEIN COUPLED RECEPTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; NEURTURIN; PROTEIN RET; TRANSCRIPTION FACTOR SOX10; TYROSINE;

ABDOMINAL DISTENSION; ABDOMINAL RADIOGRAPHY; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CASE REPORT; EXON; FOOD INTAKE; GASTROINTESTINAL RADIOGRAPHY; GENE EXPRESSION; GENE MUTATION; GENETIC CONSERVATION; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE BIOPSY; INTESTINE INNERVATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE CELL; NERVE PLEXUS; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PROTEIN DOMAIN; PROTEIN INTERACTION; SIGNAL TRANSDUCTION; TAIWAN; VOMITING;

EID: 33645312945     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(09)60128-5     Document Type: Article

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