Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I

IF 7.7 1区生物学 Q1 GENETICS & HEREDITY

American journal of human genetics Pub Date : 2026-10-01 DOI:10.1016/j.ajhg.2026.09.008

Siying Lin,Seok-Ho Yu,Andrew C. Browning,Riccardo Sangermano,Andrzej B. Poplawski,Karolina M. Stepien,Peter Kiraly,Anna R. Ridgeway,Patrick Rump,Marianthi Karali,Francesca Simonelli,Laura K. Finnegan,G. Jane Farrar,Naomi Chadderton,Paul F. Kenna,Emma Duignan,Eleanor McCance,M. Dominik Fischer,Robin Lachmann,Yael Finezilber,Shaun M. Leo,Anthony G. Robson,Nishan Guha,Elaine Murphy,Sian Sperring,Kim Rodenburg,Aleksandr Jestin,Lonneke Haer-Wigman,Jan Willem R. Pott,Marlies M.B. Habing,Emily M. Place,Rachel M. Huckfeldt,Sandro Banfi,Marcela Votruba,Kinga M. Bujakowska,Heather Flanagan-Steet,Omar A. Mahroo,Andrew R. Webster,Susanne Roosing,Richard Steet,Gavin Arno

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在没有综合征型粘多糖病I型的个体中，半胚性IDUA基因型与视网膜色素变性有关

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

American journal of human genetics 生物-遗传学

CiteScore

14.70

自引率

4.10%

发文量

185

审稿时长

1 months

期刊介绍： The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.