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-Reference-Cited by-同舟云学术

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

Published:2001 Issue:4 Volume:18 Page:308-318
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Indo Yasuhiro,Mardy Sek,Miura Yuichi,Moosa Allie,Ismail Essam A.R.,Toscano Ennio,Andria Generoso,Pavone Vito,Brown Deborah L.,Brooks Alice,Endo Fumio,Matsuda Ichiro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

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5. Characterization of single-nucleotide polymorphisms in coding regions of human genes

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