[Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members].

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...

Topics

Adult
Genes, Retinoblastoma
Genetic Counseling
Genetic Testing
Humans
Infant
Mutation
Retinal Neoplasms
Retinoblastoma

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