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A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human GALNS Gene Results in Severe Mucopolysaccharidosis Type IVA.

Q3 Medicine
Iranian Journal of Pathology Pub Date : 2025-01-01 Epub Date: 2025-01-10 DOI:10.30699/ijp.2024.2025376.3278
Moeinadin Safavi, Aria Setoodeh, Mahdiieh Ghoddoosi
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人类GALNS基因c.965C . >T （p.a ala322val）新错义突变导致IVA型严重粘多糖病。
本文章由计算机程序翻译，如有差异，请以英文原文为准。
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来源期刊
Iranian Journal of Pathology
Iranian Journal of Pathology Medicine-Pathology and Forensic Medicine
CiteScore
2.00
自引率
0.00%
发文量
99
审稿时长
20 weeks
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