Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation-Reference-Cited by-同舟云学术

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation

Published:2015-09 Issue:2 Volume:569 Page:318-322
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Lee Jin Sook,Lee Sangmoon,Lim Byung Chan,Kim Ki Joong^ORCID,Hwang Yong Seung^ORCID,Choi Murim,Chae Jong-Hee

Funder

Korea Healthcare Technology R&D project, Ministry for Health, Welfare and Family Affairs, Republic of Korea

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference18 articles.

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2. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation — c.109C>T (p.R37X);Basehore;Clin. Genet.,2014

3. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension;Choi;Science,2011

4. ATRX and the replication of structured DNA;Clynes;Curr. Opin. Genet. Dev.,2013

5. Mutations in the chromatin-associated protein ATRX;Gibbons;Hum. Mutat.,2008

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