Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos. [electronic resource]
Producer: 20121018Description: 396-400 p. digitalISSN:- 1613-2246
- Asian People -- genetics
- Axial Length, Eye -- pathology
- Child
- Codon, Nonsense
- DNA Mutational Analysis
- Electroretinography
- Female
- Fluorescein Angiography
- Heterozygote
- Humans
- Japan
- Magnetic Resonance Imaging
- Membrane Proteins -- genetics
- Microphthalmos -- genetics
- Pedigree
- Polymerase Chain Reaction
- Posterior Eye Segment -- abnormalities
- Tomography, Optical Coherence
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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