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A frameshift mutation in exon

✍ Scribed by Dawn L. Thiselton; Christiane Alexander; Alex Morris; Simon Brooks; Thomas Rosenberg; Hans Eiberg; Birgit Kjer; Poul Kjer; Shomi S. Bhattacharya; Marcela Votruba

Book ID
106137436
Publisher
Springer
Year
2001
Tongue
English
Weight
89 KB
Volume
109
Category
Article
ISSN
0340-6717

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A frameshift mutation in exon 2 of the p
A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1
✍ A. Eigel; B. Dworniczak; L. Kalaydjieva; J. Horst πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 291 KB

A deletion of a single base in codon 55 (exon 2) of the phenylalanine hydroxylase (PAH) gene has been identified by direct DNA sequencing of 94 phenylketonuria (PKU) chromosomes. This mutation alters the reading frame so that a stop signal (TAA) is generated in codon 60 of the PAH gene. Haplotype an