YUHSpace: Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain

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Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain

Authors: Hemin Lee ; Sang Ho Oh ; Kyo-Yeon Koo ; Tamio Suzuki ; Jin-Sung Lee

Citation: JOURNAL OF DERMATOLOGICAL SCIENCE, Vol.76(1) : 74-76, 2014

Journal Title: JOURNAL OF DERMATOLOGICAL SCIENCE

ISSN: 0923-1811

Issue Date: 2014

MeSH: Adolescent ; Base Sequence ; Child, Preschool ; Cytoplasm/metabolism ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenotype ; Piebaldism/genetics ; Polymerase Chain Reaction ; Protein Structure, Tertiary ; Protein-Tyrosine Kinases/genetics* ; Proto-Oncogene Proteins c-kit/genetics* ; Proto-Oncogene Proteins c-kit/metabolism ; Receptor, Melanocortin, Type 1/genetics* ; Receptor, Melanocortin, Type 1/metabolism ; Republic of Korea

Keywords: KIT ; MC1R ; Piebaldism ; Tyrosine kinase

Full Text: http://www.sciencedirect.com/science/article/pii/S0923181114001820

DOI: 10.1016/j.jdermsci.2014.07.009

Appears in Collections:: 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers

Yonsei Authors: Goo, Kyo Yeon(구교연)
Oh, Sang Ho(오상호) https://orcid.org/0000-0002-4477-1400
Lee, Jin-Sung(이진성) https://orcid.org/0000-0002-1262-8597

URI: https://ir.ymlib.yonsei.ac.kr/handle/22282913/99866

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