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Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

✍ Scribed by Adriana Maria Montaño; Ilkka Kaitila; Kazuko Sukegawa; Shunji Tomatsu; Zenichiro Kato; Haruki Nakamura; Seiji Fukuda; Tadao Orii; Naomi Kondo


Book ID
106133829
Publisher
Springer
Year
2003
Tongue
English
Weight
267 KB
Volume
113
Category
Article
ISSN
0340-6717

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## Communicated by Jürgen Horst Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42