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beta-Spectrin S-ta Barbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism
(Blackwell Science LtdOxfordInglaterra, 2001)
Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene
(Elsevier B.V., 2020-12-01)
Hereditary myotonia (HM) is a genetic disorder that occurs due to mutations in the chloride channel and results in delayed relaxation of the skeletal muscles. HM has been described in 12 dog breeds, and in five of them, ...
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family a rural isolate
(2002)
Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for α- and β-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in ...