Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency
about
Adenosine deaminase: functional implications and different classes of inhibitors.Hot spot mutations in adenosine deaminase deficiency.Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiencyHomozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locusSomatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.
P2860
Q32063453-9C480068-42B6-4EC9-8554-01C42A932C82Q33740382-027F9036-B4ED-4B3E-87CC-4A3538A1235BQ34257919-8251FFE6-9562-471B-98FC-E980AC473C5AQ35196912-AE837DA1-4B4A-4B4D-8170-990566F2293CQ35248529-B1093852-709A-4C23-AE03-EEA5F20C00A3Q35889300-72170B4B-0F5A-488D-AEE7-1CCABDF92C5FQ45871226-ED8ED593-7616-402F-91A4-F8B5343F1A4D
P2860
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency
description
1989 nî lūn-bûn
@nan
1989 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Identification of a point muta ...... en with partial ADA deficiency
@ast
Identification of a point muta ...... en with partial ADA deficiency
@en
Identification of a point muta ...... en with partial ADA deficiency
@nl
type
label
Identification of a point muta ...... en with partial ADA deficiency
@ast
Identification of a point muta ...... en with partial ADA deficiency
@en
Identification of a point muta ...... en with partial ADA deficiency
@nl
prefLabel
Identification of a point muta ...... en with partial ADA deficiency
@ast
Identification of a point muta ...... en with partial ADA deficiency
@en
Identification of a point muta ...... en with partial ADA deficiency
@nl
P2093
P2860
P356
P1476
Identification of a point muta ...... en with partial ADA deficiency
@en
P2093
A Ellenbogen
R Hirschhorn
P2860
P304
P356
10.1172/JCI113909
P407
P577
1989-02-01T00:00:00Z