Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Molecular Genetics and Metabolism

Volumn 112, Issue 2, 2014, Pages 160-170

  Morrone, A ^a,b   Tylee, K L ^c   Al Sayed, M ^d   Brusius Facchin, A C ^e   Caciotti, A ^a   Church, H J ^c   Coll, M J ^f   Davidson, K ^g   Fietz, M J ^h   Gort, L ^f   Hegde, M ⁱ   Kubaski, F ^e   Lacerda, L ^j   Laranjeira, F ^j   Leistner Segal, S ^e   Mooney, S ^k   Pajares, S ^f   Pollard, L ^l   Ribeiro, I ^j   Wang, R Y ^m   Miller, N ^g   more..

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^d KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^e HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^f INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^g BIOMARIN PHARMACEUTICAL INC   (United States)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j Unidade de Bioquímica Genética Centro de Genetica Medica Jacinto Magalhães ^*  (Portugal)

^k BUCK INSTITUTE FOR RESEARCH ON AGING   (United States)

^l GREENWOOD GENETIC CENTER   (United States)

^m CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

more..

Author keywords

GALNS; Lysosomal storage disorder; Morquio A; MPS IVA; Mucopolysaccharidosis type IVA; Mutation

Indexed keywords

CHONDROITIN 6 SULFATE; GENOMIC DNA; GLYCOSAMINOGLYCAN; KERATAN SULFATE; N ACETYLGALACTOSAMINE 6 SULFATASE; GALNS PROTEIN, HUMAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ARTICLE; DNA EXTRACTION; ENZYME ASSAY; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MORQUIO SYNDROME; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CELL CULTURE; CHILD; FEMALE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETICS; GENOTYPE; INFANT; LYSOSOME; MALE; METABOLISM; MUCOPOLYSACCHARIDOSIS IV; MUTATION; PRESCHOOL CHILD;

IVA;

CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CHONDROITINSULFATASES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOTYPE; GLYCOSAMINOGLYCANS; HUMANS; INFANT; LYSOSOMES; MALE; MUCOPOLYSACCHARIDOSIS IV; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84901624825     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.03.004     Document Type: Article

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