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Novel heterozygous c.798C>G and c.1040T>G mutations in theGBA1gene are associated with a severe phenotype of Gaucher disease type 1

✍ Scribed by Machaczka, Maciej; Klimkowska, Monika

Book ID: 121538190
Publisher: Springer
Year: 2014
Tongue: English
Weight: 259 KB
Volume: 93
Category: Article
ISSN: 0939-5555
DOI: 10.1007/s00277-014-2036-x

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## Summary The aim of this study was to identify possible disease‐associated mutations in the canine homologue of the polycystic kidney disease gene 1 (__PKD1__) in Bull Terriers with autosomal dominant polycystic kidney disease. Messenger RNA was obtained from the blood or renal tissue of five Bul