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A guinea pig hereditary cataract contains a splice-site mutation in a crystallin gene

✍ Scribed by I.R. Rodriguez; P. Gonzalez; S. Zigler; T. Borrás


Book ID
115894482
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
124 KB
Volume
55
Category
Article
ISSN
0014-4835

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Restriction fragment length polymorphism analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (G----T) at nucleotide 8863 in the C1-inhibitor gene. This destroys the 5' donor splice site recognition motif of the sixth intron. Fam