Literature DB >> 25176472

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

Hemin Lee1, Sang Ho Oh1, Kyo-Yeon Koo2, Tamio Suzuki3, Jin-Sung Lee4.   

Abstract

Entities:  

Keywords:  KIT; MC1R; Piebaldism; Tyrosine kinase

Mesh:

Substances:

Year:  2014        PMID: 25176472     DOI: 10.1016/j.jdermsci.2014.07.009

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN: 0923-1811            Impact factor:   4.563


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  2 in total

1.  Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Authors:  Jerry C Nagaputra; Mark J A Koh; Maggie Brett; Eileen C P Lim; Hwee-Woon Lim; Ene-Choo Tan
Journal:  JAAD Case Rep       Date:  2018-03-31

2.  Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis.

Authors:  Béla Tóth; Norbert Kiss; Judit Hársing; Sarolta Kárpáti; Judit Csomor; Csaba Bödör; József Tímár; Erzsébet Rásó
Journal:  Virchows Arch       Date:  2020-05-05       Impact factor: 4.064

  2 in total

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