1.A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia.
Soo Young MOON ; In Jae JUN ; Ji Eun KIM ; Seung Jun LEE ; Hyun Kyung KIM ; Sung Soo YOON
Annals of Laboratory Medicine 2014;34(2):159-162
No abstract available.
5-Aminolevulinate Synthetase/chemistry/*genetics
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Adult
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Anemia, Sideroblastic/*genetics/pathology
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Asian Continental Ancestry Group/*genetics
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Base Sequence
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Genetic Diseases, X-Linked/*genetics/pathology
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Hemizygote
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Humans
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Male
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Mutation, Missense
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Polymorphism, Single Nucleotide
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Republic of Korea