A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia

Ann Lab Med. 2014 Mar;34(2):159-62. doi: 10.3343/alm.2014.34.2.159. Epub 2014 Feb 13.

Authors

Soo Young Moon¹, In-Jae Jun¹, Ji-Eun Kim¹, Seung Jun Lee¹, Hyun Kyung Kim¹, Sung-Soo Yoon²

Affiliations

¹ Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
² Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

5-Aminolevulinate Synthetase / chemistry
5-Aminolevulinate Synthetase / genetics*
Adult
Anemia, Sideroblastic / genetics*
Anemia, Sideroblastic / pathology
Asian People / genetics*
Base Sequence
Genetic Diseases, X-Linked / genetics*
Genetic Diseases, X-Linked / pathology
Hemizygote
Humans
Male
Mutation, Missense
Polymorphism, Single Nucleotide
Republic of Korea

Substances

5-Aminolevulinate Synthetase
ALAS2 protein, human

Supplementary concepts

X-linked sideroblastic anemia