Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.
about
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.The genetic basis of severe combined immunodeficiency and its variants.A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)).Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.
P2860
Q35510477-C2209E1B-EB36-4FD5-906A-45D1F85AF1D5Q36925253-F42E000A-A3B8-485F-A0DF-50D4167212D0Q39508628-10608F1C-DC90-4524-A9AB-1B212F9D34D6Q40118078-5FA8BF50-249F-4112-B935-780A55C087D6Q40286856-23B506A4-B99F-4B8B-A2A2-A72C7FE6146CQ40947579-20AA3526-DF60-4A87-9539-573940FC857EQ41301461-D3E9AE2B-E4A8-4F10-B64B-8FE96237C658Q43566199-D3F56FC6-E617-4D63-A22F-4D40D3410D2BQ43987188-0172A0FA-59AB-40C8-8139-62FD6F793B98
P2860
Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Molecular diagnosis of severe ...... and Southeast Asian children.
@en
Molecular diagnosis of severe ...... and Southeast Asian children.
@nl
type
label
Molecular diagnosis of severe ...... and Southeast Asian children.
@en
Molecular diagnosis of severe ...... and Southeast Asian children.
@nl
prefLabel
Molecular diagnosis of severe ...... and Southeast Asian children.
@en
Molecular diagnosis of severe ...... and Southeast Asian children.
@nl
P2093
P2860
P1476
Molecular diagnosis of severe ...... and Southeast Asian children.
@en
P2093
Amir Hamzah Abdul Latiff
Anselm C W Lee
Chen-Guang Xu
Geraldine Sultan-Ugdoracion
Hsin-Hui Yu
Hua-Song Zeng
Kit-Man Chu
Koon-Wing Chan
Lee-Lee Chan
P2860
P2888
P304
P356
10.1007/S10875-010-9489-Z
P577
2010-12-24T00:00:00Z