Učitavanje...
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...
Spremljeno u:
| Izdano u: | Pak J Med Sci |
|---|---|
| Glavni autori: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Professional Medical Publications
2020
|
| Teme: | |
| Online pristup: | 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 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|