Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
about
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosisWhole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.Genetic studies of human neuropathic pain conditions: a review.
P2860
Q28533935-65271191-42A9-4683-990C-CEBF2734438FQ39762726-B781DC65-3DE9-4342-9922-E9270A825B67Q41775115-1CC8E830-03E4-4887-89DF-F26B138E7155Q51107047-FBB2A296-CFD4-4D56-83C2-293DB3F654C1Q52605544-C187B22B-2CDA-4181-8D23-0ABA15CE61D8Q54978896-6CEA2930-1944-4924-905F-B2756EB6A640Q55240474-9BAFB2B6-7C52-4181-B066-9695E02F536F
P2860
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Novel nonsense and frameshift ...... vity to pain with anhidrosis.
@en
type
label
Novel nonsense and frameshift ...... vity to pain with anhidrosis.
@en
prefLabel
Novel nonsense and frameshift ...... vity to pain with anhidrosis.
@en
P2093
P356
P1476
Novel nonsense and frameshift ...... vity to pain with anhidrosis.
@en
P2093
P304
P356
10.4238/2012.MAY.18.8
P577
2012-08-13T00:00:00Z