论文信息 - Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants - 字舞流文

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie | W. Robberecht | B. Engelen | D. Halley | A. Tarnutzer | M. Ausems | W. Lissens | H. Najmabadi | M. Kroos | B. Plecko | M. d'Hooghe | A. Tylki-Szymańska | A. T. van der Ploeg | J. Hurst | L. Bonafė | R. Pomponio | M. Shboul | H. Michelakakis | E. Mengel | V. Stojanović | T. Okumiya | A. Reuser | M. Hoogeveen‐Westerveld | E. Paschke | I. Mavridou | M. Ćuk | K. Fumic | D. Majoor-Krakauer | M. Tanšek | N. M. van der Beek | J. Bautista Lorite | E. Maraví | P. Serdaroǧlu | Simon A. Jones | A. Küçükçongar | P. Augoustides-Savvopoulou | Kristof Verhoeven | S. Perić | M. Kariminejad | Allan M Lund | Shingo Kumamoto | E. Muntéis Olivas | J. B. Llona | A. Farouk | E. García-Delgado | A. Herzog | Maria Venâncio | P. Serdarog̃lu | M. D’hooghe | Simon A Jones | Allan Lund | K. Verhoeven