A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia.
10.3343/alm.2014.34.2.159
- Author:
Soo Young MOON
1
;
In Jae JUN
;
Ji Eun KIM
;
Seung Jun LEE
;
Hyun Kyung KIM
;
Sung Soo YOON
Author Information
1. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea. lukekhk@snu.ac.kr
- Publication Type:Case Reports ; Letter ; Research Support, Non-U.S. Gov't
- MeSH:
5-Aminolevulinate Synthetase/chemistry/*genetics;
Adult;
Anemia, Sideroblastic/*genetics/pathology;
Asian Continental Ancestry Group/*genetics;
Base Sequence;
Genetic Diseases, X-Linked/*genetics/pathology;
Hemizygote;
Humans;
Male;
Mutation, Missense;
Polymorphism, Single Nucleotide;
Republic of Korea
- From:Annals of Laboratory Medicine
2014;34(2):159-162
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.