GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms (2017)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1016/j.biocel.2017.09.006
- Subjects: LISOSSOMOS; MUTAÇÃO; GENÓTIPOS; FENÓTIPOS
- Agências de fomento:
- Isotope Lab Facility of the University Medical Center Hamburg-Eppendorf
- Microscopy Imaging Facility of the University Medical Center Hamburg-Eppendorf
- Deutsche Forschungsgemeinschaft [SFB877-B3]
- Fund for the Incentive of Research of Hospital de Clinicas de Porto Alegre (FIPE-HCPA)
- Brazilian Federal Agency for the Support and Evaluation of Graduate Education (CAPES)
- Brazilian National Council for Scientific and Technological Development (CNPq)
- Language: Inglês
- Imprenta:
- Source:
- Título: International journal of biochemistry & cell biology
- ISSN: 1357-2725
- Volume/Número/Paginação/Ano: v. 92, p. 90-94, 2017
- Este artigo NÃO possui versão em acesso aberto
-
Status: Nenhuma versão em acesso aberto identificada -
ABNT
LUDWIG, Nataniel Floriano e KIM, Chong Ae. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. International journal of biochemistry & cell biology, v. 92, p. 90-94, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.biocel.2017.09.006. Acesso em: 11 mar. 2026. -
APA
Ludwig, N. F., & Kim, C. A. (2017). GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. International journal of biochemistry & cell biology, 92, 90-94. doi:10.1016/j.biocel.2017.09.006 -
NLM
Ludwig NF, Kim CA. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms [Internet]. International journal of biochemistry & cell biology. 2017 ; 92 90-94.[citado 2026 mar. 11 ] Available from: https://doi.org/10.1016/j.biocel.2017.09.006 -
Vancouver
Ludwig NF, Kim CA. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms [Internet]. International journal of biochemistry & cell biology. 2017 ; 92 90-94.[citado 2026 mar. 11 ] Available from: https://doi.org/10.1016/j.biocel.2017.09.006 - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
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