Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts-Reference-Cited by-同舟云学术

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Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

Published:2002-02-08 Issue:3 Volume:110 Page:279-283
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Leegwater P.,Boor P.,Yuan B.,van der Steen J.,Visser A.,Könst A.,Oudejans C.,Schutgens R.,Pronk J.,van der Knaap M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0682-x.pdf

Cited by 76 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. Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature;Frontiers in Genetics;2024-02-29

2. Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families;Brain and Development;2022-08

3. Leucodistrofia megalencefálica con quistes subcorticales: la importancia del diagnóstico temprano;Boletín Médico del Hospital Infantil de México;2022-04-21

4. Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants;Scientific Reports;2021-02-05

5. Cellular basis of ClC-2 Cl− channel–related brain and testis pathologies;Journal of Biological Chemistry;2021-01

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