Article
[Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 1998
Huang Q, Dryja T P, Yandell D W
Abstract excerpt
OBJECTIVE: To develop a diagnostic test for direct identification of disease-causing mutation in the patients with retinoblastoma and correct prediction of carrier- status in unaffected adults and newborns in the RB kindred. METHODS: Southern blot hybridized by Rb cDNA and other intragenic probes were used to detect big deletions or rearrangements at Rb gene locus. SSCP analysis and direct sequencing of...
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