Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Article ID	Journal	Published Year	Pages	File Type
5589817	Gene	2017	21 Pages	PDF

Abstract

Molecular analysis of GALNS gene revealed four novel mutations in four different Morquio A Egyptian patients.

Keywords

kDa HGMD GAGs DBS MPSS Mucopolysaccharidoses RFLP N-acetylgalactosamine-6-sulfatase GLB1 mRNA polymorphism phenotyping v2 NRC C6S MPS IVA enzyme replacement therapy Autosomal recessive β-galactosidase intelligence quotient mutation messenger ribonucleic acid GALNS Keratan sulfate dried blood spots Egyptian ERT polymerase chain reaction PCR Human Gene Mutation Database PolyPhen-2 restriction fragment length polymorphism Chondroitin-6-sulfate Kilo Dalton Glycosaminoglycans

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

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Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Authors

Ekram M. (Professor), Hanan Abd (Assistant Professor), Noura R. (Assistant Reseacher), Mona M. (Assistant Professor), Mona S. (Professor), Mona L. (Professor),