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RB1 Gene Mutations in Peripheral Blood DNA of Patients with Isolated Unilateral Retinoblastoma

✍ Scribed by Martina Klutz; Bernhard Horsthemke; Dietmar R. Lohmann

Book ID
117852718
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
49 KB
Volume
64
Category
Article
ISSN
0002-9297

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## Abstract We report the presence of a hemizygous inactivating germ‐line __RB1__ mutation (a recurrent g.78250Cβ†’T transition, resulting in a stop codon in exon 17) in peripheral blood DNA from a patient with hereditary bilateral retinoblastoma. Hemizygosity was established by sequencing that showe

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