一个家族群体中血红蛋白S和葡萄糖-6-磷酸脱氢酶缺乏症的遗传情况。 - Suppr

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超能文献

Inheritance of Hb S and G6PD deficiency in a familiar group.

作者信息

Domingos Claudia Bonini, Rios Jonathan de Oliveira, Orlandini Leticia Cardoso, Pereira Lucas Ramos

机构信息

UNESP, Brazil.

出版信息

Arch Med Sci. 2024 Mar 13;20(2):704-707. doi: 10.5114/aoms/185325. eCollection 2024.

DOI:10.5114/aoms/185325

PMID:38757016

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11094812/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8782/11094812/df498a9f93f6/AMS-20-2-185325-g001.jpg

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Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].塞内加尔达喀尔镰状细胞病儿科人群的遗传背景及一种新型移码β地中海贫血突变[HBB:c.265_266del;p.Leu89Glufs*2]的特征分析

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