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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 (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과) > 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) ORCID logo https://orcid.org/0000-0002-4477-1400
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99866
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