Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

Item
http://www.wikidata.org/entity/Q35284909
Coronin-1A: immune deficiency in humans and miceThe disease-linked Glu-26-Lys mutant version of Coronin 1A exhibits pleiotropic and pathway-specific signaling defects.Inborn errors in immunity: unique natural models to dissect oral immunity.Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal associationChemokines, their receptors and human disease: the good, the bad and the itchy.Insights into primary immune deficiency from quantitative microscopy.Severe Epstein-Barr virus infection in primary immunodeficiency and the normal host.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma.Proof of Principle for a T Lymphocyte Intrinsic Function of Coronin 1A.Severe combined immunodeficiencies and related disorders.Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis.Nanoscale Dynamism of Actin Enables Secretory Function in Cytolytic Cells.Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia.From Phagocytes to Immune Defense: Roles for Coronin Proteins in Dictyostelium and Mammalian Immunity.Inherited Immunodeficiencies With High Predisposition to Epstein–Barr Virus-Driven Lymphoproliferative Diseases.Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.
P2860

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

Item
http://www.wikidata.org/entity/Q35284909
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին 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
Compound heterozygous CORO1A m ...... ulomatous tuberculoid leprosy.
@ast
Compound heterozygous CORO1A m ...... ulomatous tuberculoid leprosy.
@en
type
label
Compound heterozygous CORO1A m ...... ulomatous tuberculoid leprosy.
@ast
Compound heterozygous CORO1A m ...... ulomatous tuberculoid leprosy.
@en
prefLabel
Compound heterozygous CORO1A m ...... ulomatous tuberculoid leprosy.
@ast
Compound heterozygous CORO1A m ...... ulomatous tuberculoid leprosy.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Compound heterozygous CORO1A m ...... ulomatous tuberculoid leprosy.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932