Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a pho...

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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Yang, Mina, Cho, Sung Yun, Park, Hyung-Doo, Choi, Rihwa, Kim, Young-Eun, Kim, Jinsup, Lee, Soo-Youn, Ki, Chang-Seok, Kim, Jong-Won, Sohn, Young Bae, Song, Junghan, Jin, Dong-Kyu
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240260/
https://ncbi.nlm.nih.gov/pubmed/28095893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0556-2
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