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Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families

✍ Scribed by Yasushi Isashiki; Norio Ohba; Toyoko Yanagita; Naoko Hokita; Norihito Doi; Masanori Nakagawa; Masayuki Ozawa; Noriko Kuroda


Publisher
Springer
Year
1995
Tongue
English
Weight
566 KB
Volume
95
Category
Article
ISSN
0340-6717

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Initiation codon mutation (ATG β†’ ATA) of
✍ Dr. Britta Landin; Olle Rudolphi; BΓ–Rje Ek πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 436 KB πŸ‘ 1 views

An initiation codon mutation ATG-ATA of the p-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a p