Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
about
Genetics of inflammatory bowel disease from multifactorial to monogenic formsIdentifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With ImmunodeficiThe Contributions of Human Mini-Intestines to the Study of Intestinal Physiology and Pathophysiology.Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm.Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison.Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defectsSevere combined immunodeficiencies and related disorders.Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.Ichthyosis as the dermatological phenotype associated with TTC7A mutations.Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure
P2860
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P2860
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
description
2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@ast
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@en
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@nl
type
label
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@ast
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@en
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@nl
prefLabel
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@ast
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@en
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@nl
P2093
P50
P1476
Immune deficiency-related ente ...... e repeat domain 7A deficiency.
@en
P2093
Alain Morali
Amélie Bigorgne
Cécile Talbotec
Frank Ruemmele
Hans Clevers
Henner F Farin
Jana Pachlopnik-Schmid
Julie Lemale
Nicole Brousse
Pascal Cathebras
P304
1354-1364.e6
P356
10.1016/J.JACI.2014.07.019
P407
P50
P577
2014-08-28T00:00:00Z