Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase

American Journal of Human Genetics

Volumn 87, Issue 2, 2010, Pages 258-264

  Dvir, Liron ^a   Srour, Gassoub ^b   Abu Ras, Rasmi ^b   Miller, Benjamin ^a,c   Shalev, Stavit A ^a,d   Ben Yosef, Tamar ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b Clalit Health Services   (Israel)

^c RAMBAM MEDICAL CENTER   (Israel)

^d HAEMEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP PHOSPHODIESTERASE; HOLOENZYME; PROTEIN; PROTEIN PDE6G; UNCLASSIFIED DRUG;

ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 17Q; CHROMOSOME IDENTIFICATION; CONSANGUINITY; DISEASE SEVERITY; ELECTRORETINOGRAM; ENZYME ACTIVITY; ENZYME SUBUNIT; EXON; FOVEAVIRUS; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; HUMAN; INTRON; MOSLEM; NUCLEOTIDE SEQUENCE; ONSET AGE; OPHTHALMOSCOPY; OPTIC DISK; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR; PIGMENTATION; PRIORITY JOURNAL; RETINA FOVEA; RETINA MACULA CYSTOID EDEMA; RETINA ROD; RETINITIS PIGMENTOSA; RNA SPLICING; SEQUENCE ANALYSIS; VISUAL FIELD DEFECT;

ADOLESCENT; AGE OF ONSET; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FUNDUS OCULI; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; ISRAEL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN SUBUNITS; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; RNA SPLICING;

CYSTOIDEA;

EID: 77955575605     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.06.016     Document Type: Article

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