Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 13, 2011, Pages 9665-9673

  Stone, Edwin M ^a   Luo, Xunda ^b   Héon, Elise ^c   Lam, Byron L ^d   Weleber, Richard G ^e   Halder, Jennifer A ^a   Affatigato, Louisa M ^a   Goldberg, Jacqueline B ^b   Sumaroka, Alexander ^b   Schwartz, Sharon B ^b   Cideciyan, Artur V ^b   Jacobson, Samuel G ^b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; EYE EXAMINATION; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; MALE; MALE GERM CELL ASSOCIATED KINASE GENE; NIGHT VISION; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PHOTORECEPTOR; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; VISUAL IMPAIRMENT; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHOTORECEPTOR CELL; PHYSIOLOGY; RECESSIVE GENE; VISUAL ACUITY;

EYE PROTEIN; MAK PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; RP1 PROTEIN, HUMAN;

ADULT; AGED; EXONS; EYE PROTEINS; GENES, RECESSIVE; HUMANS; MIDDLE AGED; MUTATION; PHOTORECEPTOR CELLS, VERTEBRATE; PROTEIN-SERINE-THREONINE KINASES; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS;

EID: 84857662146     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8527     Document Type: Article

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