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Trichomegaly in two sisters with synophrys in the older sibling

✍ Scribed by Micky Osovsky; Paul Merlob

Book ID
101449937
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
45 KB
Volume
136A
Category
Article
ISSN
1552-4825

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Splicing defect of the glycoasparaginase
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosamimiria
✍ Kunihiro Yoshida; Nobuo Yanagisawa; Akihiro Oshima; Hitoshi Sakuraba; YΓ΄ichi Iid πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 268 KB

Molecular analysis of the glycoasparaginase gene was performed on two Japanese siblings with aspartylglucosaminuria. The cDNA from one patient contained 7 additional bases between exons 3 and 4 (3'-terminal sequence of intron 3). This insertion resulted in a frame shift, and a termination codon appe