Associated Papers
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
Essawi ML et al.
Journal, Genetic Engineering & Biotechnology, 2021
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
Cury GK et al.
Gene, 2013
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
Coutinho MF et al.
Clinical Genetics, 2011
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
Tappino B et al.
Human Mutation, 2009
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
Otomo T et al.
Journal of Human Genetics, 2009
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