Congenital Insensitivity to Pain With Anhidrosis (CIPA): Novel Mutations of theTRKA (NTRK1) Gene, a Putative Uniparental Disomy, and a Linkage of the mutantTRKA andPKLR Genes in a Family With CIPA and Pyruvate Kinase Deficiency

Human Mutation - United States
doi 10.1002/humu.1192
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Genetics
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Wiley

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