Article
[A novel KIT gene mutation results in piebaldism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2005
Deng Wei-ping, Lu Chun, Zhu Guo-xing, Lin Qun-di, Feng Pei-ying
Abstract excerpt
OBJECTIVE: To detect gene mutation in proband and his mother from a family with piebaldism. METHODS: Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism. RESULTS: G1833A transition in the KIT gene was found in the proband of the family with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.