An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover-Reference-Cited by-同舟云学术

An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover

Published:1994-01 Issue:1 Volume:58 Page:1-9
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Ann Human Genet

Author:

HIRSCHHORN R.,YANG D. R.,ISRANI A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.1994.tb00720.x/fullpdf

Reference30 articles.

1. Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.

2. Activity of adenosine deaminase allelic forms in intact erythrocytes and in lymphocytes

3. Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA−SCID patients

4. Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G: evidence for a single origin of the common G6PD A ? mutation

5. The CpG dinucleotide and human genetic disease

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