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-Reference-Cited by-同舟云学术

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

Published:2012-05-29 Issue:8 Volume:33 Page:1161-1165
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Kroos Marian,Hoogeveen-Westerveld Marianne,Michelakakis Helen,Pomponio Robert,Van der Ploeg Ans,Halley Dicky,Reuser Arnold,Augoustides-Savvopoulou Persephone,Ausems Margreet,Llona Jose Barcena,Bautista Lorite Juan,van der Beek Nadine,Bonafe Luisa,Cuk Mario,D'Hooghe Marc,Engelen Baziel,Farouk A.,Fumic K.,Garcia-Delgado E.,Herzog Andreas,Hurst J.,Jones Simon,Kariminejad M. H.,Küçükçongar Aynur,Lissens W.,Lund Allan,Majoor-Krakauer Danielle,Kumamoto Shingo,Maravi E.,Marie Suely,Mengel Eugen,Mavridou Irene,Munteis Olivas E.,Najmabadi H.,Okumiya Toshika,Peric Stojan,Paschke Eduard,Plecko Barbara,Robberecht Wim,Serdaroglu Piraye,Shboul Mohammad,Tansek Mojca Zerjav,Tarnutzer A.,Stojanovic Vidosava Rakocevic,Tylki-Szymanska Anna,Venâncio Maria,Verhoeven Kristof,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22108/fullpdf

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3. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy;Gungor;Orphanet J Rare Dis,2011

4. Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight;Hasilik;J Biol Chem,1980

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