Article
The sld genetic defect: two intronic CA repeats promote insertion of the subsequent intron and mRNA decay.
The Journal of biological chemistry - 24 May 2013
Das Biswadip, Cash Melanie N, Robinson Bently, Kuhns Christopher S, Latchney Lisa R, Fallon Margaret A, Elliott Rosemary W, Hand Arthur R, Culp David J
Abstract excerpt
The autosomal recessive mutation, sld, attenuates mucous cell expression in murine sublingual glands with corresponding effects on mucin 19 (Muc19). We conducted a systematic study including genetic mapping, sequencing, and functional analyses to elucidate a mutation to explain the sld phenotype in neonatal mice. Genetic mapping and gene expression analyses localized the sld mutation within the gene Muc19/Smgc,...
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