Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

about

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

P2860

Q52686806-663B5ECF-168C-4482-BB25-9F103D855F5C

P2860

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

Item

http://www.wikidata.org/entity/Q54645748

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

Estimated disease incidence of ...... Exome Aggregation Consortium.

@en

Estimated disease incidence of ...... Exome Aggregation Consortium.

@nl

type

Item

label

Estimated disease incidence of ...... Exome Aggregation Consortium.

@en

Estimated disease incidence of ...... Exome Aggregation Consortium.

@nl

prefLabel

Estimated disease incidence of ...... Exome Aggregation Consortium.

@en

Estimated disease incidence of ...... Exome Aggregation Consortium.

@nl

P1476

Estimated disease incidence of ...... Exome Aggregation Consortium.

@en

P2093

Attila Kumánovics

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

Boglarka Ujhazi

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

Daniel G MacArthur

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

Devin W Close

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

Emily M Coonrod

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

Gergely Krivan

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

Jolan E Walter

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

Karin Chen

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

Luigi D Notarangelo

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

P2860

Structure of the RAG1 nonamer binding domain with DNA reveals a dimer that mediates DNA synapsis

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

Crystal structure of the V(D)J recombinase RAG1-RAG2

Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

RAG-dependent primary immunodeficiencies.

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Combined immunodeficiency: the Middle East experience.

P304

690-692.e3

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

P31

scholarly article

P356

10.1016/J.JACI.2016.07.027

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

P407

English

P433

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

P478

139

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

P50

Yu Nee Lee

P577

2016-09-05T00:00:00Z

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

P698

27609655

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

P932

5303162

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

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

about

P2860

P2860

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932