Article
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
European journal of medical genetics - 1 Jan 2000
Ramzan Khushnooda, Taibah Khalid, Tahir Asma I, Al-Tassan Nada, Berhan Amal, Khater Ahmed M, Al-Hazzaa Selwa A F, Al-Owain Mohammed, Imtiaz Faiqa
Abstract excerpt
Hearing impairment is the common human sensorineural disorder and is a genetically heterogeneous phenotype for which more than 100 genomic loci have been mapped so far. ILDR1 located on chromosome 3q13.33, encodes a putative transmembrane receptor containing an immunoglobulin-like domain. We used a combination of autozygosity mapping and candidate gene sequencing to identify a novel mutation in ILDR1, as a...
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