Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients

✍ Scribed by Bru Cormand; Lluïsa Vilageliu; Susana Balcells; Roser Gonzàlez-Duarte; Amparo Chabás; Daniel Grinberg

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 298 KB
• Volume: 7
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1996)7:3<272::aid-humu14>3.0.co;2-#