Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex

Molecular Vision

Volumn 15, Issue , 2009, Pages 1794-1798

  Zenteno, Juan Carlos ^a,b   Buentello Volante, Beatriz ^b   Quiroz González, Miguel A ^b   Quiroz Reyes, Miguel A ^b  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b Institute of Ophthalmology   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; MEMBRANE FRIZZLED RELATED PROTEIN; TYROSINE; UNCLASSIFIED DRUG;

A MODE ULTRASOUND EXAMINATION; ADOLESCENT; ADULT; ALLELE; APPLANATION TONOMETRY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B MODE ULTRASOUND EXAMINATION; CASE REPORT; DILATED FUNDUS EXAMINATION; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EXON; EYE DISEASE; FEMALE; FLUORESCEIN RETINAL ANGIOGRAPHY; FRAMESHIFT MUTATION; FUNDUS PHOTOGRAPHY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HYPERMETROPIA; MALE; MEXICO; MICROPHTHALMIA; NANOPHTHALMOS RETINITIS PIGMENTOSA FOVEOSCHISIS OPTIC DISC DRUNSEN; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; OPHTHALMOSCOPY; OPTIC DISC DRUNSEN; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; REFRACTION ERROR; RETINA DYSTROPHY; RETINA MACULA CYSTOID EDEMA; RETINITIS PIGMENTOSA; SIGNAL TRANSDUCTION; SLIT LAMP;

ADOLESCENT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FAMILY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RETINITIS PIGMENTOSA;

EID: 70149097769     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

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