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- W2367996959 abstract "Objective: To determine c-kit gene mutations in two sporadic Chinese patients with piebaldism. Methods: Twenty-one coding exons of the c-kit gene were amplified by PCR and followed by DNA sequencing. Detected mutations were further confirmed by restriction enzyme digestion. Results: C1862A and T1784C point mutations in the c-kit gene were found in the two patients with piebaldism, which changed GCT to GAT mutation at codon 621 and CTG to CCG at codon 595, respectively. The mutations resulted in Ala621Asp and Leu595Pro substitution in c-kit gene. No mutation was found in their parents and 50 normal control individuals. Conclusion: Ala621Asp and Leu595Pro mutations of c-kit gene are the causes of the piebaldism in these two Chinese sporadic patients." @default.
- W2367996959 created "2016-06-24" @default.
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- W2367996959 date "2006-01-01" @default.
- W2367996959 modified "2023-09-23" @default.
- W2367996959 title "De novo missense mutations of c-kit gene in two sporadic patients with piebaldism" @default.
- W2367996959 hasPublicationYear "2006" @default.
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