The full length cDNA of bovine HGD has been identified, encoding a deduced protein of 445 amino acids (Accession No. FJ515744). The bovine HGD gene comprises 14 exons and 13 introns. This is the first published cDNA bovine sequences that share high sequence similarity with other species. ...
Interestingly, polymorphism c.650– 86A4G was described by Vilboux et al.19 Unfortunately, the cDNA of the patient is not available for analysis in order to confirm the splicing effect. We plan to perform MLPA analysis in this patient, in order to test for a presence of possible larger ...