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타이로시나제 유전자 돌연변이를 동반한 눈피부백색증 1A형

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Author(s)
권준일하정숙이규석조재위
Keimyung Author(s)
Ha, Jung SookLee, Kyu SukCho, Jae We
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Dermatology (피부과학)
Journal Title
대한피부과학회지
Issued Date
2012
Volume
50
Issue
11
Keyword
Oculocutaneous albinismTyrosinase mutation
Abstract
Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder with reduction or complete absence
of melanin in the skin, hair, eyes and combined with eye disorder, such as nystagmus and strabismus. OCA is
including four types, from OCA 1 to OCA 4. OCA 1 is the most frequent, and produced by the loss of function
of melanocytic enzyme tyrosinase, resulting from mutations of the tyrosinase (TYR) gene. We report a case of
2-year-old Korean toddler OCA 1A patient with white skin, hair, eyelashes, and eyebrows. TYR gene mutation, fully
translucent pinkish irises, with skin that does not tan, was also observed.
Alternative Title
A Case of Oculocutaneous Albinism 1A Accompanying with Tyrosinase Mutation
Keimyung Author(s)(Kor)
하정숙
이규석
조재위
Publisher
School of Medicine
Citation
권준일 et al. (2012). 타이로시나제 유전자 돌연변이를 동반한 눈피부백색증 1A형. 대한피부과학회지, 50(11), 987–990.
Type
Article
ISSN
0494-4739
Source
http://kiss.kstudy.com/thesis/thesis-view.asp?key=3125583
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/39880
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Dermatology (피부과학)
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
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