Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8317373 | Clinical Biochemistry | 2014 | 6 Pages |
Abstract
Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I. A founder effect for the p.Glu64Asp and the p.Gly268Val can be suggested based on the place of origin of the carriers of these mutations. Identification of the causative mutations of GAI in Cypriot patients will facilitate carrier detection as well as post- and pre-natal diagnosis.
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Authors
Theodoros Georgiou, Paola Nicolaidou, Anastasia Hadjichristou, Rodothea Ioannou, Maria Dionysiou, Elli Siama, Georgia Chappa, Violetta Anastasiadou, Anthi Drousiotou,