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

Author:

Lee Hemin,Oh Sang HoORCID,Koo Kyo-Yeon,Suzuki Tamio,Lee Jin-SungORCID

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. Piebaldism;Oiso;J Dermatol,2013

2. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism;Spritz;Am J Hum Genet,1992

3. Three novel mutations of the proto-oncogene KIT cause human piebaldism;Syrris;Am J Med Genet,2000

4. W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor;Reith;Genes Dev,1990

5. Effect of the c-kit codon 584 Phe–Leu substitution demonstrated in human piebaldism;Fleischman;Am J Hum Genet,1992

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