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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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| Publicado no: | Pak J Med Sci |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Professional Medical Publications
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7150380/ https://ncbi.nlm.nih.gov/pubmed/32292456 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12669/pjms.36.3.467 |
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