Matsushita, Itsuka <br/><br/>
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.  [electronic resource] 

 -  Japanese journal of ophthalmology  Jul 2012 
 - 396-400 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1613-2246 
<br/><br/><label>Standard No.: </label>10.1007/s10384-012-0145-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Asian People--genetics<br/>Axial Length, Eye--pathology<br/>Child<br/>Codon, Nonsense<br/>DNA Mutational Analysis<br/>Electroretinography<br/>Female<br/>Fluorescein Angiography<br/>Heterozygote<br/>Humans<br/>Japan<br/>Magnetic Resonance Imaging<br/>Membrane Proteins--genetics<br/>Microphthalmos--genetics<br/>Pedigree<br/>Polymerase Chain Reaction<br/>Posterior Eye Segment--abnormalities<br/>Tomography, Optical Coherence