检测导致肌腺苷酸脱氨酶缺乏的AMPD1基因中C34-T突变的新方法。 - Suppr

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超能文献

New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency.

作者信息

Gross M

出版信息

Ann Rheum Dis. 1994 May;53(5):353-4. doi: 10.1136/ard.53.5.353.

DOI:10.1136/ard.53.5.353

PMID:8017994

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1005342/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a56b/1005342/aa991f9fd8ed/annrheumd00493-0067-a.jpg

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New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency.检测导致肌腺苷酸脱氨酶缺乏的AMPD1基因中C34-T突变的新方法。

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Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.AMPD1基因C34 - T和G468 - T突变所致原发性MADD的临床意义及神经病理学

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引用本文的文献

Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.先天性肌肉AMP脱氨酶缺乏症的临床异质性及分子机制

J Inherit Metab Dis. 1997 Jun;20(2):186-92. doi: 10.1023/a:1005352605421.

本文引用的文献

Characterization of the human and rat myoadenylate deaminase genes.

J Biol Chem. 1990 Jun 5;265(16):9423-33.

Molecular basis of AMP deaminase deficiency in skeletal muscle.骨骼肌中AMP脱氨酶缺乏的分子基础。

Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6457-61. doi: 10.1073/pnas.89.14.6457.

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