一名腺嘌呤磷酸核糖转移酶缺乏症患者中，一个等位基因发生错义突变，另一个等位基因发生7个碱基对的缺失。 - Suppr | 超能文献

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.

作者信息

Sahota A, Chen J, Bye S, Jaing J, Berenyi M, Fekete G, Tischfield J A

机构信息

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202.

出版信息

Hum Mutat. 1994;3(3):315-7. doi: 10.1002/humu.1380030324.

DOI:10.1002/humu.1380030324

Abstract

摘要

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引用本文的文献

1

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.

Clin Investig. 1994 Jul;72(7):550-3. doi: 10.1007/BF00207486.