A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.

Ben El Haj, Rafiqua; Regragui, Wafaa; Tazi-Ahnini, Rachid; Skalli, Asmae; Bouslam, Naima; Benomar, Ali; Yahyaoui, Mohamed; Bouhouche, Ahmed

Ben El Haj, Rafiqua; Regragui, Wafaa; Tazi-Ahnini, Rachid; Skalli, Asmae; Bouslam, Naima; Benomar, Ali; Yahyaoui, Mohamed; Bouhouche, Ahmed.

Afiliação

Ben El Haj R; Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco.
Regragui W; Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, 10100 Rabat, Morocco.
Tazi-Ahnini R; Laboratory of Biotechnology, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco.
Skalli A; Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco.
Bouslam N; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, 10100 Rabat, Morocco.
Benomar A; Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, 10100 Rabat, Morocco.
Yahyaoui M; Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, 10100 Rabat, Morocco.
Bouhouche A; Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, 10100 Rabat, Morocco.

Biomed Res Int ; 2016: 3460234, 2016.

Article em En | MEDLINE | ID: mdl-27413743

Assuntos

Mutação; Doença de Parkinson/genética; Proteínas Quinases/genética; Motivos de Aminoácidos; Cromossomos/ultraestrutura; Transtornos Cognitivos/genética; Biologia Computacional; Progressão da Doença; Éxons; Homozigoto; Humanos; Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética; Levodopa/uso terapêutico; Masculino; Pessoa de Meia-Idade; Marrocos; Mutação de Sentido Incorreto; Análise de Sequência com Séries de Oligonucleotídeos; Doença de Parkinson/tratamento farmacológico; Linhagem; Fenótipo; Domínios Proteicos; Análise de Sequência de DNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Proteínas Quinases / Mutação Tipo de estudo: Prognostic_studies Limite: Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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