Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects
about
Exome and genome sequencing for inborn errors of immunity.Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison.Severe combined immunodeficiencies and related disorders.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure
P2860
Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Hypomorphic mutation in TTC7A ...... structural intestinal defects
@en
Hypomorphic mutation in TTC7A ...... structural intestinal defects
@nl
type
label
Hypomorphic mutation in TTC7A ...... structural intestinal defects
@en
Hypomorphic mutation in TTC7A ...... structural intestinal defects
@nl
prefLabel
Hypomorphic mutation in TTC7A ...... structural intestinal defects
@en
Hypomorphic mutation in TTC7A ...... structural intestinal defects
@nl
P2093
P2860
P50
P1433
P1476
Hypomorphic mutation in TTC7A ...... structural intestinal defects
@en
P2093
Caner Aytekin
Cecilia Domínguez Conde
Ferda Ozbay Hosnut
Herbert Pichler
Ivan Bilic
Kaan Boztug
Sema Apaydin
Stavroula Woutsas
Susanne Matthes
Thomas Lion
P2860
P304
P356
10.1182/BLOOD-2014-08-595397
P407
P577
2015-03-01T00:00:00Z