Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.

Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.

Item
http://www.wikidata.org/entity/Q30586898
Thyroid transcription factors in development, differentiation and diseaseA novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.Replication and Meta-Analysis of Common Gene Mutations in TTF1 and TTF2 with Papillary Thyroid Cancer.Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.Rtfc (4931414P19Rik) Regulates in vitro Thyroid Differentiation and in vivo Thyroid Function.Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome.High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis.High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism
P2860

Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.

Item
http://www.wikidata.org/entity/Q30586898
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Identification and functional ...... th the data in the literature.
@ast
Identification and functional ...... th the data in the literature.
@en
type
label
Identification and functional ...... th the data in the literature.
@ast
Identification and functional ...... th the data in the literature.
@en
prefLabel
Identification and functional ...... th the data in the literature.
@ast
Identification and functional ...... th the data in the literature.
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P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Identification and functional ...... th the data in the literature.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698