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

Japanese Journal of Ophthalmology

Volumn 56, Issue 4, 2012, Pages 396-400

  Matsushita, Itsuka ^a   Kondo, Hiroyuki ^a   Tawara, Akihiko ^a  

^a UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

Author keywords

Compound nonsense heterozygous mutations; Membrane type frizzled related protein gene; MFRP; Nanophthalmos; Posterior microphthalmos

Indexed keywords

MEMBRANE PROTEIN; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; EYE AXIS LENGTH; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERMETROPIA; JAPANESE; MFRP GENE; MICROPHTHALMIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC DISK; POSTERIOR MICROPHTHALMIA; PRIORITY JOURNAL; RETINA BLOOD VESSEL; SCHOOL CHILD; VASODILATATION; VISUAL SYSTEM EXAMINATION;

ASIAN CONTINENTAL ANCESTRY GROUP; AXIAL LENGTH, EYE; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HETEROZYGOTE; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MEMBRANE PROTEINS; MICROPHTHALMOS; PEDIGREE; POLYMERASE CHAIN REACTION; POSTERIOR EYE SEGMENT; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84863860793     PISSN: 00215155     EISSN: 16132246     Source Type: Journal    
DOI: 10.1007/s10384-012-0145-4     Document Type: Article

References (11)

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