ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. [electronic resource]
Producer: 20130404Description: 265-70 p. digitalISSN:- 1537-6605
- Aldehyde Dehydrogenase -- genetics
- Aldehyde Oxidoreductases
- Anophthalmos -- enzymology
- Chromosome Segregation -- genetics
- Exons -- genetics
- Female
- Genes, Recessive -- genetics
- Genetic Linkage
- HEK293 Cells
- Homozygote
- Humans
- Introns -- genetics
- Male
- Microphthalmos -- enzymology
- Mutant Proteins -- metabolism
- Mutation -- genetics
- Pedigree
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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