TY  - GEN
AU  - Matsushita,Itsuka
AU  - Kondo,Hiroyuki
AU  - Tawara,Akihiko
TI  - Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos
SN  - 1613-2246
PY  - 2012///1018
KW  - Asian People
KW  - genetics
KW  - Axial Length, Eye
KW  - pathology
KW  - Child
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Electroretinography
KW  - Female
KW  - Fluorescein Angiography
KW  - Heterozygote
KW  - Humans
KW  - Japan
KW  - Magnetic Resonance Imaging
KW  - Membrane Proteins
KW  - Microphthalmos
KW  - Pedigree
KW  - Polymerase Chain Reaction
KW  - Posterior Eye Segment
KW  - abnormalities
KW  - Tomography, Optical Coherence
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10384-012-0145-4
ER  -