A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein-Reference-Cited by-同舟云学术

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A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein

Published:1993 Issue:9 Volume:2 Page:1493-1494
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

Gossage David L.,Norby-Slycord Colette J.,Hershfied Michael S.,Markert M.Loulse

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/2/9/1493/1724929/2-9-1493.pdf

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy;Journal of Allergy and Clinical Immunology;2013-07

2. Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma;International Journal of Oncology;2012-07-20

3. Nonsense-Mediated Decay of Human HEXA mRNA;Molecular and Cellular Biology;2001-08-15

4. Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles;The American Journal of Human Genetics;1998-10

5. Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del;Human Mutation;1998

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