Mucopolysaccharidosis IVA: Identification of a Common Missense Mutation I113F in the N-Acetylgalactosamine-6-Sulfate Sulfatase Gene

Mucopolysaccharidosis IVA is an autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The recent isolation and characterization of cDNA and genomic sequences encoding GALNS has facilitated identification of the molecular lesions that caus...

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Autori principali: Tomatsu, Shunji, Fukuda, Seiji, Cooper, Alan, Wraith, James E., Rezvi, Golam Md. Maruf, Yamagishi, Atsushi, Yamada, Naoto, Kato, Zenichiro, Isogai, Kouji, Sukegawa, Kazuko, Kondo, Naomi, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Orii, Tadao
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801282/
https://ncbi.nlm.nih.gov/pubmed/7668283
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