A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
about
Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.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.The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.Hereditary sensory and autonomic neuropathy types IV and V in Japan.Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
P2860
A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
A novel point mutation affecti ...... ivity to pain with anhidrosis.
@en
type
label
A novel point mutation affecti ...... ivity to pain with anhidrosis.
@en
prefLabel
A novel point mutation affecti ...... ivity to pain with anhidrosis.
@en
P2093
P1476
A novel point mutation affecti ...... ivity to pain with anhidrosis.
@en
P2093
Fukumaru S
Kobayashi K
Mizoguchi S
Setoyama M
Yotsumoto S
P304
P356
10.1046/J.1523-1747.1999.00569.X
P407
P577
1999-05-01T00:00:00Z
P5875
P6179
1045116673