Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease

Clinical Chemistry

Volumn 51, Issue 8, 2005, Pages 1552-1554

  Lui, Vincent C H ^a   Leon, Thomas Y Y ^a   Garcia Barcelo, Maria Mercedes ^a   Ganster, Raymond W ^a   Chen, Benedict L S ^a   Hutson, John M ^b   Tam, Paul K H ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; PROTEIN RET; PROTEIN TYROSINE KINASE;

ARTICLE; CONTROLLED STUDY; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; INTRACELLULAR TRANSPORT; MULTIGENE FAMILY; PHENOTYPE; RECEPTOR BINDING; RECEPTOR GENE; RET GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; WESTERN BLOTTING;

ENDOTHELIN-3; FEMALE; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; HIRSCHSPRUNG DISEASE; HUMANS; MUTATION; NERVE GROWTH FACTORS; ONCOGENE PROTEINS; PEDIGREE; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, ENDOTHELIN B; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION;

EID: 23044456303     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.051904     Document Type: Article

References (14)

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