Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. [electronic resource]
Producer: 20120723Description: 270-1 p. digitalISSN:- 1096-7206
- Chromosome Aberrations
- Congenital Disorders of Glycosylation -- diagnosis
- Genes, Recessive -- genetics
- Homocystinuria -- diagnosis
- Homozygote
- Humans
- Microsatellite Repeats -- genetics
- Mutation
- Pathology, Molecular -- methods
- Phosphotransferases (Phosphomutases) -- deficiency
- Propionic Acidemia -- diagnosis
- Uniparental Disomy -- diagnosis
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Publication Type: Letter; Research Support, Non-U.S. Gov't
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