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Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene

โœ Scribed by Paul J. Isackson; Heather Bujnicki; Cary O. Harding; Georgirene D. Vladutiu


Book ID
116987664
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
255 KB
Volume
86
Category
Article
ISSN
1096-7192

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Aberrant splicing in the LMNA gene cause
โœ Nicola Carboni; Matteo Floris; Anna Mateddu; Maurizio Porcu; Giovanni Marrosu; E ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 253 KB

Introduction: Familial dilated cardiomyopathy with conduction system defects variably associated with skeletal muscle abnormalities is frequently caused by LMNA gene mutations. Methods: A family affected by cardiac abnormalities, either isolated or variably associated with skeletal muscle compromise