Article
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
Human mutation - 1 Aug 2004
Tomatsu Shunji, Filocamo Mirella, Orii Koji O, Sly William S, Gutierrez Monica A, Nishioka Tatsuo, Serrato Olga Peña, Di Natale Paola, Montaño Adriana Maria, Yamaguchi Seiji, Kondo Naomi, Orii Tadao, Noguchi Akihiko
Abstract excerpt
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS gene was performed by RT-PCR with one amplicon and direct sequence analyses using cDNA samples from 15 Italian MPS IVA patients. Each mutation was confirmed at the genomic level. In this study, 13 different gene mutations with four...
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