Congenital insensitivity to pain with anhidrosis (CIPA) : novel mutations of the TRKA(NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.

Congenital insensitivity to pain with anhidrosis (CIPA) : novel mutations of the TRKA(NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
复制标题

先天性疼痛不敏感伴无汗症 (CIPA):TRKA(NTRK1) 基因的新突变、假定的单亲二体性以及 CIPA 和丙酮酸激酶缺陷家族中突变 TRKA 和 PKLR 基因的连锁。

DOI:
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发表时间:
2001
期刊:
Human Mutation 18
影响因子:
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通讯作者:
et al.
et al.
中科院分区:
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文献类型:
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作者:
Y.Indo;et al.

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