Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

We report four new mutations in Japanese patients with mucopolysaccharidosis IVA (MPSIVA) who were heterozygous for a common double gene deletion. A nonsense mutation of CAG to TAG at codon 148 in exon 4 was identified, resulting in a change of Q to a stop codon and three missense mutations. V (GTC)...

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Auteurs principaux: Tomatsu, S., Fukuda, S., Yamagishi, A., Cooper, A., Wraith, J. F., Hori, T., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N., Orii, T.
Format: Artigo
Langue:Inglês
Publié: 1996
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914620/
https://ncbi.nlm.nih.gov/pubmed/8651279
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