Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease

Human Mutation

Volumn 34, Issue 1, 2013, Pages 132-142

  Hyndman, Brandy D ^a   Gujral, Taranjit S ^a,b   Krieger, Jonathan R ^a,c   Cockburn, Jessica G ^a   Mulligan, Lois M ^a  

^a QUEEN S UNIVERSITY   (Canada)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Genotype phenotype; Hirschsprung disease; Receptor tyrosine kinase; RET proto oncogene; Structure function

Indexed keywords

PHOSPHOTRANSFERASE; REARRANGED DURING TRANSFECTION KINASE; UNCLASSIFIED DRUG;

ARTICLE; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; REARRANGED DURING TRANSFECTION GENE;

BINDING SITES; BLOTTING, WESTERN; CELL MOVEMENT; HEK293 CELLS; HIRSCHSPRUNG DISEASE; HUMANS; MODELS, MOLECULAR; MUTATION; PHOSPHORYLATION; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENE PROTEINS C-RET; RNA STABILITY; SIGNAL TRANSDUCTION; TRANSFECTION;

EID: 84871612386     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22170     Document Type: Article

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