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Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients

OBJECTIVE: Genetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients. METHODS: We sequenced the SMPD1 gene including its all coding and flanking regions in seven unrelated sporadic patients suffering from Niemann-Pick disease through targeted exome sequenci...

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Detalles Bibliográficos
Autores principales:	Cheema, Huma Arshad, Rasool, Iqra Ghulam, Anjum, Muhammad Nadeem, Zahoor, Muhammad Yasir
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Professional Medical Publications 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7150380/ https://www.ncbi.nlm.nih.gov/pubmed/32292456 http://dx.doi.org/10.12669/pjms.36.3.467

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