Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
about
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant allelesNovel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)Inhibition of Transient Receptor Potential Channel Mucolipin-1 (TRPML1) by Lysosomal Adenosine Involved in Severe Combined Immunodeficiency Diseases.
P2860
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
description
1991 nî lūn-bûn
@nan
1991 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Homozygosity for a newly ident ...... aminase deficiency (ADA-SCID).
@ast
Homozygosity for a newly ident ...... aminase deficiency (ADA-SCID).
@en
type
label
Homozygosity for a newly ident ...... aminase deficiency (ADA-SCID).
@ast
Homozygosity for a newly ident ...... aminase deficiency (ADA-SCID).
@en
prefLabel
Homozygosity for a newly ident ...... aminase deficiency (ADA-SCID).
@ast
Homozygosity for a newly ident ...... aminase deficiency (ADA-SCID).
@en
P2093
P2860
P1476
Homozygosity for a newly ident ...... aminase deficiency (ADA-SCID).
@en
P2093
R Hirschhorn
S D Douglas
V Chakravarti
P2860
P304
P407
P577
1991-10-01T00:00:00Z