Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.

Matsushita, Itsuka

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

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1613-2246

10.1007/s10384-012-0145-4 doi


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