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

Human Mutation

Volumn 33, Issue 8, 2012, Pages 1161-1165

  Kroos, Marian ^a   Hoogeveen Westerveld, Marianne ^a   Michelakakis, Helen ^b   Pomponio, Robert ^c   Van der Ploeg, Ans ^a   Halley, Dicky ^a   Reuser, Arnold ^a   Augoustides Savvopoulou, Persephone ^d   Ausems, Margreet ^e   Llona, Jose Barcena ^f   Bautista Lorite, Juan ^g   van der Beek, Nadine ^a   Bonafe, Luisa ^h   Cuk, Mario ⁱ   D'Hooghe, Marc ^j   Engelen, Baziel ^k   Farouk, A ^l   Fumic, K ^m   Garcia Delgado, E ⁿ   Herzog, Andreas ^o   Hurst, J ^p   Jones, Simon ^q   Kariminejad, M H ^r   Küçükçongar, Aynur ^s   Lissens, W ^t   Lund, Allan ^u   Majoor Krakauer, Danielle ^a   Kumamoto, Shingo ^v   Maravi, E ^w   Marie, Suely ^x   Mengel, Eugen ^o   Mavridou, Irene ^b   Munteis Olivas, E ^y   Najmabadi, H ^r   Okumiya, Toshika ^v   Peric, Stojan ^z   Paschke, Eduard ^aa   Plecko, Barbara ^aa   Robberecht, Wim ^ab   Serdaroglu, Piraye ^ac   Shboul, Mohammad ^ad   Tansek, Mojca Zerjav ^ae   Tarnutzer, A ^af   Stojanovic, Vidosava Rakocevic ^z   Tylki Szymanska, Anna ^ag   Venâncio, Maria ^ah   Verhoeven, Kristof ^j   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Institute of Child Health   (Greece)

^c GENZYME CORPORATION   (United States)

^d Aristotle University and Hippokration General Hospital   (Greece)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f HOSPITAL DE CRUCES   (Spain)

^g HOSPITAL UNIVERSITARI SAGRAT COR   (Spain)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁱ KBC Zagreb   (Croatia)

^j General Hospital St Jan   (Belgium)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l Hrraa Hospital Mecca   (Saudi Arabia)

^m UNIVERSITY OF ZAGREB   (Croatia)

ⁿ HOSPITAL DE MÓSTOLES   (Spain)

^o UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^p CHURCHILL HOSPITAL   (United Kingdom)

^q ST MARY S HOSPITAL   (United Kingdom)

^r Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^s GAZI UNIVERSITY   (Turkey)

^t University Hospital   (Belgium)

^u University of Copenhagen   (Denmark)

^v KUMAMOTO UNIVERSITY   (Japan)

^w Instituto de Investigación Sanitaria de Navarra   (Spain)

^x UNIVERSITY OF SÃO PAULO   (Brazil)

^y HOSPITAL DEL MAR   (Spain)

^z UNIVERSITY OF BELGRADE   (Serbia)

^aa UNIVERSITY OF GRAZ   (Austria)

^ab UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^ac ISTANBUL UNIVERSITY   (Turkey)

^ad National Center for Diabetis   (Jordan)

^ae UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^af UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^ag CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^ah Children's Hospital Carmona da Mota   (Portugal)

more..

Author keywords

glucosidase; Acid maltase; GAA; Glycogenosis; Lysosomal storage disorder; Pompe disease

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ARTICLE; CELL LINE; COMPUTER MODEL; COMPUTER PROGRAM; CONTROLLED STUDY; CULTURE MEDIUM; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; EXON; FRAMESHIFT MUTATION; FUNCTIONAL GENOMICS; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC DATABASE; GENETIC TRANSFECTION; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; MOLECULAR WEIGHT; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN TRANSPORT; RATING SCALE; SITE DIRECTED MUTAGENESIS; STOP CODON;

ALPHA-GLUCOSIDASES; DATABASES, GENETIC; GENETIC PREDISPOSITION TO DISEASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MUTATION;

EID: 84863872592     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22108     Document Type: Article

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