Article
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
BMC medical genetics - 18 Dec 2019
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
Abstract excerpt
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 individuals with unexplained autosomal recessive neurological conditions, using both genome-wide SNP mapping and whole...
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