TCIRG1-associated congenital neutropenia. - Wikidata - wikimedia - TriplyDB

TCIRG1-associated congenital neutropenia.

TCIRG1-associated congenital neutropenia.

http://www.wikidata.org/entity/Q34416395

about

Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.How I manage children with neutropenia.Severe congenital neutropenias.GM-CSF treatment is not effective in congenital neutropenia patients due to its inability to activate NAMPT signaling.Old and new faces of neutropenia in children.Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.In Utero Heat Stress Alters the Offspring Epigenome

P2860

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P2860

TCIRG1-associated congenital neutropenia.

http://www.wikidata.org/entity/Q34416395

description

2014 nî lūn-bûn

@nan

2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մայիսին 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

TCIRG1-associated congenital neutropenia.

@ast

TCIRG1-associated congenital neutropenia.

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TCIRG1-associated congenital neutropenia.

@nl

type

label

TCIRG1-associated congenital neutropenia.

@ast

TCIRG1-associated congenital neutropenia.

@en

TCIRG1-associated congenital neutropenia.

@nl

prefLabel

TCIRG1-associated congenital neutropenia.

@ast

TCIRG1-associated congenital neutropenia.

@en

TCIRG1-associated congenital neutropenia.

@nl

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P1476

TCIRG1-associated congenital neutropenia.

@en

P2093

Audrey Anna Bolyard

http://www.w3.org/2001/XMLSchema#string

David C Dale

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Deborah A Nickerson

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Elisabeth A Rosenthal

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Joshua D Smith

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Julia Skokowa

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Karl Welte

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Kathryn M Bofferding

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Kati Buckingham

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Laurence A Boxer

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P2860

Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein

Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

A method and server for predicting damaging missense mutations

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

The mutational spectrum of human malignant autosomal recessive osteopetrosis

Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome

ERAD: the long road to destruction

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

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824-827

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scholarly article

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10.1002/HUMU.22563

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7

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35

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Jennifer Elizabeth Below

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2014-05-21T00:00:00Z

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24753205

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