Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel

Author:

Rafi Mohammad A.,Luzi Paola,Zlotogora Joel,Wenger David A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF (1993) Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53:330–338

2. Casanova J-L, Pannetier CP, Jaulin C, Kourilsky P (1990) Optimal conditions for directly sequencing double-stranded PCR products with Sequenase. Nucleic Acids Res 18:4028

3. Chen YQ, Wenger DA (1993) Galactocerebrosidase from human urine: purification and partial characterization. Biochim Biophys Acta 1170:53–61

4. Chen YQ, Rafi MA, de Gala G, Wenger DA (1993) Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 2:1841–1845

5. Chomezynski P, Sacchi N (1987) Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156–159

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

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3