Literature DB >> 17034777

DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.

Ching-Wan Lam, Matthew Shu-Ching Yan, Chi-Kong Li, Kin-Chong Lau, Sui-Fan Tong, Hoi-Yin Tang.   

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Year:  2006        PMID： 17034777     DOI： 10.1016/j.cca.2006.09.004

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  3 in total

1.  Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.

Authors:  Yi Qian; Eline van Meel; Heather Flanagan-Steet; Alex Yox; Richard Steet; Stuart Kornfeld
Journal:  J Biol Chem       Date:  2014-12-11       Impact factor: 5.157

2.  Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Authors:  S S Cathey; J G Leroy; T Wood; K Eaves; R J Simensen; M Kudo; R E Stevenson; M J Friez
Journal:  J Med Genet       Date:  2009-07-16       Impact factor: 6.318

3.  Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.

Authors:  F Sperb-Ludwig; T Alegra; R V Velho; N Ludwig; C A Kim; F Kok; J P Kitajima; E van Meel; S Kornfeld; M G Burin; I V D Schwartz
Journal:  Mol Genet Metab Rep       Date:  2014-12-05
  3 in total

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