Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
about
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant allelesGenetic mosaicism: what Gregor Mendel didn't know.ida4-1, ida4-2, and ida4-3 are intron splicing mutations affecting the locus encoding p28, a light chain of Chlamydomonas axonemal inner dynein armsCombined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.In vivo reversion to normal of inherited mutations in humans.Somatic mosaicism in a patient with neurofibromatosis type 1.Neonatal bone marrow transplantation of ADA-deficient SCID mice results in immunologic reconstitution despite low levels of engraftment and an absence of selective donor T lymphoid expansion.Partial defects of T-cell development associated with poor T-cell function.A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells
P2860
Q24539210-190C6588-295E-4431-BE03-54FBB131C150Q34198501-A745153D-0C86-4960-8E6F-1E05F7EC17D7Q34449271-93E776B5-B816-4F6D-8CDF-AE66E0968FB0Q34452150-56DB8A6E-0880-4F40-9F3F-95685A5EA6E0Q34472144-20469869-8558-444E-8560-E7DA42F62EBFQ35284944-ABF36642-19EB-4E24-8EEF-83AB9751FFC0Q35440872-975D9E85-6E1C-4A08-9EBE-E45ADCBDA380Q35881534-60F0F56C-CE24-4FF9-A451-324FB50EE5B9Q36713570-D7C2724C-83F4-4F49-B749-56D7A8BE95B0Q36808097-DFE40B91-EF2F-4018-9013-7B5E9980C329Q41471275-2245CE18-80FA-49CC-981F-F3344E08DC44
P2860
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Somatic mosaicism for a newly ...... spontaneous clinical recovery.
@ast
Somatic mosaicism for a newly ...... spontaneous clinical recovery.
@en
type
label
Somatic mosaicism for a newly ...... spontaneous clinical recovery.
@ast
Somatic mosaicism for a newly ...... spontaneous clinical recovery.
@en
prefLabel
Somatic mosaicism for a newly ...... spontaneous clinical recovery.
@ast
Somatic mosaicism for a newly ...... spontaneous clinical recovery.
@en
P2093
P2860
P1476
Somatic mosaicism for a newly ...... spontaneous clinical recovery.
@en
P2093
P2860
P407
P577
1994-07-01T00:00:00Z