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A new type of mutation causes a splicing defect in ATM

✍ Scribed by Pagani, Franco; Buratti, Emanuele; Stuani, Cristiana; Bendix, Regina; Dörk, Thilo; Baralle, Francisco E.

Book ID
109919732
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
310 KB
Volume
30
Category
Article
ISSN
1061-4036

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Two mutations are reported in six tyrosinemia type 1 patients from northern Europe. In four patients, a G to A transition at nucleotide position 1009 (G1009-->A) of the fumarylacetoacetase (FAH) coding sequence caused aberrant splicing by introducing an acceptor splice site within exon 12, thereby d