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。
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发表时间:
2001
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影响因子:
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et al.
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作者:
Y.Indo;et al.