Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.
about
Species-specific alternative splicing of the epidermal growth factor-like domain 1 of cartilage aggrecanAdenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant allelesThe molecular basis of partial penetrance of splicing mutations in cystic fibrosis.Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report.Adenosine deaminase deficiency: a review.
P2860
Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.
description
1994 nî lūn-bûn
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1994年の論文
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1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
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1994年論文
@zh-tw
1994年论文
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1994年论文
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1994年论文
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name
Correct splicing despite mutat ...... denosine deaminase deficiency.
@ast
Correct splicing despite mutat ...... denosine deaminase deficiency.
@en
type
label
Correct splicing despite mutat ...... denosine deaminase deficiency.
@ast
Correct splicing despite mutat ...... denosine deaminase deficiency.
@en
prefLabel
Correct splicing despite mutat ...... denosine deaminase deficiency.
@ast
Correct splicing despite mutat ...... denosine deaminase deficiency.
@en
P2093
P2860
P1476
Correct splicing despite mutat ...... adenosine deaminase deficiency
@en
P2093
C M Schlossman
D T Umetsu
F X Arredondo-Vega
I Santisteban
M S Hershfield
P2860
P304
P407
P577
1994-05-01T00:00:00Z