Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

BACKGROUND: Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden. METHODS: We investigated the cause of disease in three Pakistani families in indi...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Khan, Shazia, Rawlins, Lettie E., Harlalka, Gaurav V., Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L., Crosby, Andrew H., Ahmad, Wasim, Gul, Asma
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2019
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6921424/
https://ncbi.nlm.nih.gov/pubmed/31852446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0907-7
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