Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry. [electronic resource]
Producer: 20161213Description: 550-5 p. digitalISSN:- 1476-5438
- ATP-Binding Cassette Transporters -- genetics
- Adenosine Triphosphatases -- genetics
- Adult
- Cation Transport Proteins -- genetics
- Child
- Copper-Transporting ATPases
- Female
- Genetic Diseases, X-Linked -- genetics
- Genome, Human
- Heterozygote
- Humans
- Infant
- Male
- Mutation, Missense
- Pedigree
- Spinocerebellar Ataxias -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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