Title : A homozygous missense mutation in the tyrosine E kinase domain of the RET proto-oncogene in an infant with total intestinal aganglionosis.

Pub. Date : 2001 Apr

PMID : 11316186






1 Functional Relationships(s)
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1 A homozygous missense mutation (CGG-to-TGG) at RET codon 969 was identified in this patient, which resulted in an amino acid change from arginine to tryptophan. Arginine ret proto-oncogene Homo sapiens