Heterozygous mutations of OTX2 cause severe ocular malformations. [electronic resource]
Producer: 20050708Description: 1008-22 p. digitalISSN:- 0002-9297
- Amino Acid Motifs
- Amino Acid Sequence
- Animals
- Anophthalmos -- genetics
- Brain -- diagnostic imaging
- Chromosome Mapping
- DNA Mutational Analysis
- Eye Abnormalities -- genetics
- Female
- Gene Expression Regulation, Developmental
- Genes, Homeobox
- Genetic Variation
- Heterozygote
- Homeodomain Proteins -- chemistry
- Humans
- Magnetic Resonance Imaging
- Male
- Mice
- Models, Genetic
- Mosaicism
- Mutation
- Open Reading Frames
- Otx Transcription Factors
- Pedigree
- Penetrance
- Protein Structure, Tertiary
- Radiography
- Sequence Analysis, DNA
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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