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G.P.3 08 Novel mutations in the CHRNB1 gene in three patients affected by a congenital myasthenic syndrome

✍ Scribed by J.S. Müller; F. Hoellen; U. Schara; J. Johannsen; K. Bentele; V. Rakocevic Stojanovic; V. Milic Rasic; S. Todorovic; A. Abicht; H. Lochmüller


Book ID
116792525
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
46 KB
Volume
16
Category
Article
ISSN
0960-8966

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Fifty percent of the infantile malignant osteopetrosis (IMO) cases reported in the literature present mutations in the TCIRG1 gene encoding the 116-kDa osteoclast specific subunit of the vacuolar proton ATPase (ATP6I). In this study, we identified four novel mutations in a series of six IMO patients