Artículo

Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman

Gatto, Emilia Mabel; Etcheverry, Jose L.; Converso, Daniela PaolaIcon ; Bidinost, Carla; Rosa, Alberto LuisIcon
Fecha de publicación: 15/10/2010
Editorial: Wiley-liss, div John Wiley & Sons Inc.
Revista: Movement Disorders
ISSN: 0885-3185
e-ISSN: 1531-8257
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

Resumen

Neurodegeneration with brain iron accumulation (NBIA) refers to a heterogeneous group of disorders.1–3 The pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by defective iron metabolism associated with mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13–p12.3.
Palabras clave: PANK2 gene , Brain iron accumulation , Neurodegeneration , Phenotype
 
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/187842
URL: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.23063
DOI: https://doi.org/10.1002/mds.23063
Colecciones
Articulos(CCT - CORDOBA)
Articulos de CTRO.CIENTIFICO TECNOL.CONICET - CORDOBA
Citación
Gatto, Emilia Mabel; Etcheverry, Jose L.; Converso, Daniela Paola; Bidinost, Carla; Rosa, Alberto Luis; Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman; Wiley-liss, div John Wiley & Sons Inc.; Movement Disorders; 25; 13; 15-10-2010; 2262-2264
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