Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2‐Related Epilepsy
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DOI: 10.1055/s-0037-1606370
Abstract: Abstract Recently, heterozygous de novo mutations in SCL1A2 have been reported to underlie severe early‐onset epileptic encephalopathy. In one male presenting with epileptic seizures and visual impairment, we identified a novel homozygous splicing variant in… read more here.
Keywords: biallelic mutations; mode inheritance; slc1a2 related;
Prevalence and Mode of Inheritance of the Dal Blood Group in Dogs in North America
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DOI: 10.1111/jvim.14693
Abstract: Background The Dal blood group system was identified a decade ago by the accidental sensitization of a Dal− Dalmatian with a Dal+ blood transfusion. Similar Dal‐related blood incompatibilities have been suspected in other Dalmatians, Doberman… read more here.
Keywords: dal; doberman pinschers; mode inheritance; dal blood ... See more keywords