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GM1-gangliosidosis: tandem duplication within exon 3 of β-galactosidase gene in an infantile patient

✍ Scribed by Akihiro Oshima; Kunihlro Yoshida; Asayo Ishlzaki; Michie Sbimmoto; Yuklko Fukuhara; Hltoshi Sakuraba; Yoshiynkl Suzuki


Book ID
115091347
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
338 KB
Volume
41
Category
Article
ISSN
0009-9163

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A homozygous missense arginine to histid
✍ G. Mosna; S. Fattore; G. Tubiello; S. Brocca; M. Trubia; E. Gianazza; R. Gatti; 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 494 KB

We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in h