Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.

Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.

Item
http://www.wikidata.org/entity/Q35246426
Nijmegen breakage syndrome (NBS)Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localizationRole of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathwaysNBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaksNijmegen breakage syndrome.Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.Severe microcephaly with normal intellectual development: the Nijmegen breakage syndromeATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21The MRX Complex Ensures NHEJ Fidelity through Multiple Pathways Including Xrs2-FHA-Dependent Tel1 Activation.Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24.Unusual T cell clones in a patient with Nijmegen breakage syndrome.The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11
P2860

Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.

Item
http://www.wikidata.org/entity/Q35246426
description
1988 nî lūn-bûn
@nan
1988 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Patients with an inherited syn ...... ship to ataxia telangiectasia.
@ast
Patients with an inherited syn ...... ship to ataxia telangiectasia.
@en
type
label
Patients with an inherited syn ...... ship to ataxia telangiectasia.
@ast
Patients with an inherited syn ...... ship to ataxia telangiectasia.
@en
prefLabel
Patients with an inherited syn ...... ship to ataxia telangiectasia.
@ast
Patients with an inherited syn ...... ship to ataxia telangiectasia.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P921
P932
P1433
P1476
Patients with an inherited syn ...... nship to ataxia telangiectasia
@en
P2093
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P921
P932