Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

Published:2008 Issue:6 Volume:29 Page:E58-E67
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Santamaria Raül,Michelakakis Helen,Moraitou Marina,Dimitriou Evangelia,Dominissini Silvia,Grossi Serena,Sánchez-Ollé Gessamí,Chabás Amparo,Pittis María Gabriela,Filocamo Mirella,Vilageliu Lluïsa,Grinberg Daniel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era;American Journal of Medical Genetics Part A;2023-04-12

2. Long‐term follow‐up of a patient with neonatal form of Gaucher disease;American Journal of Medical Genetics Part A;2023-04-03

3. Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression;Molecular Genetics and Metabolism Reports;2022-09

4. Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings;European Journal of Paediatric Neurology;2021-05

5. Genetic characterization of the Albanian Gaucher disease patient population;JIMD Reports;2020-11-17

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP