Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA - ) individuals that result in differing biochemical and metabolic phenotypes-Reference-Cited by-同舟云学术

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Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA - ) individuals that result in differing biochemical and metabolic phenotypes

Published:1997-06-19 Issue:1 Volume:100 Page:22-29
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Hirschhorn R.,Borkowsky W.,Jiang C.-K.,Yang D. R.,Jenkins T.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050460.pdf

Cited by 12 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. Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants;Journal of Allergy and Clinical Immunology;2024-08

2. Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency;Annals of Allergy, Asthma & Immunology;2022-12

3. Severe combined immune deficiency;Stiehm's Immune Deficiencies;2020

4. Severe Combined Immunodeficiencies;Stiehm's Immune Deficiencies;2014

5. Immunodeficiency Disorders;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

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