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Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes

✍ Scribed by Iris Schrijver; Wanguo Liu; Raanan Odom; Thomas Brenn; Peter Oefner; Heinz Furthmayr; Uta Francke


Book ID
117853958
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
888 KB
Volume
71
Category
Article
ISSN
0002-9297

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We have constructed double mutants carrying either ssb-1 or ssb-113 alleles, which encode temperature-sensitive single strand DNA binding proteins (SSB), and the uvrD::Tn5 allele causing deficiency in DNA helicase II, and have examined sensitivity to ultraviolet light (UV), recombination and spontan