Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies
✍ Scribed by Hiroshi Manya; Céline Bouchet; Akiko Yanagisawa; Sandrine Vuillaumier-Barrot; Susana Quijano-Roy; Yasushi Suzuki; Svetlana Maugenre; Pascale Richard; Toshiyuki Inazu; Luciano Merlini; Norma B. Romero; France Leturcq; Isabelle Bezier; Haluk Topaloglu; Brigitte Estournet; Nathalie Seta; Tamao Endo; Pascale Guicheney
- Book ID
- 116793324
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 161 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0960-8966
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Two distinct human light subunits of the heteromeric amino acid transporter, y+LAT-1 coded by SLC7A7 and y+LAT-2 coded by SLC7A6, are both known to induce transport system y+L activity. SLC7A7 has already been identified as the gene responsible for lysinuric protein intolerance (LPI). We successfull