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Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream

✍ Scribed by Jerome R. Lo Ten Foe; Frank A.E. Kruyt; Marjolein B.M. Zweekhorst; Gerard Pals; Rachel A. Gibson; Christopher G. Mathew; Hans Joenje; Fré Arwert


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
355 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis


How

Fancbni anemia (FA) is a rare autosomal recessive disease characterized by diverse clinical symptoms, chromosomal instability, and hypersensitivity