A molecular genetics view on Mucopolysaccharidosis Type II.

Verma, Shalja; Pantoom, Supansa; Petters, Janine; Pandey, Anand Kumar; Hermann, Andreas; Lukas, Jan

Verma, Shalja; Pantoom, Supansa; Petters, Janine; Pandey, Anand Kumar; Hermann, Andreas; Lukas, Jan.

Afiliación

Verma S; Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Gehlsheimer Str. 20, 18147, Rostock, Germany; National Institute of Malarial Research, Indian Council of Medical Research, New Delhi, 110077, India.
Pantoom S; Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Gehlsheimer Str. 20, 18147, Rostock, Germany.
Petters J; Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Gehlsheimer Str. 20, 18147, Rostock, Germany.
Pandey AK; Department of Biotechnology Engineering, Institute of Engineering and Technology, Bundelkhand University, Jhansi, 284128, U.P., India.
Hermann A; Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Gehlsheimer Str. 20, 18147, Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rost
Lukas J; Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Gehlsheimer Str. 20, 18147, Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rost

Mutat Res Rev Mutat Res ; 788: 108392, 2021.

Article en En | MEDLINE | ID: mdl-34893157

Asunto(s)

Glicoproteínas/metabolismo; Mucopolisacaridosis II/genética; Animales; Glicoproteínas/química; Glicoproteínas/genética; Humanos; Mucopolisacaridosis II/tratamiento farmacológico; Mucopolisacaridosis II/metabolismo; Mutación; Fenotipo

Palabras clave

Genotype-phenotype correlation; Hunter syndrome; Iduronate-2-sulfatase; Individualized medicine; Lysosomal storage disease; Missense mutations

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glicoproteínas / Mucopolisacaridosis II Límite: Animals / Humans Idioma: En Revista: Mutat Res Rev Mutat Res Año: 2021 Tipo del documento: Article País de afiliación: India

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