Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

Ophthalmology

Volumn 120, Issue 12, 2013, Pages 2697-2705

  Siemiatkowska, Anna M ^a   Van Den Born, L Ingeborgh ^b   Van Hagen, P Martin ^c   Stoffels, Monique ^a,d   Neveling, Kornelia ^a   Henkes, Arjen ^a   Kipping Geertsema, Mieke ^a   Hoefsloot, Lies H ^a   Hoyng, Carel B ^a   Simon, Anna ^a,d   Den Hollander, Anneke I ^a,d   Cremers, Frans P M ^a,d   Collin, Rob W J ^a,d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ROTTERDAM EYE HOSPITAL   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MEVALONATE KINASE; MEVALONIC ACID; PHOSPHOTRANSFERASE;

ADULT; ARTICLE; ATAXIA; CASE STUDY; COHORT ANALYSIS; EXOME; EYE EXAMINATION; FEMALE; FUNDUS AUTOFLUORESCENCE ANALYSIS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; KIDNEY FAILURE; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PHOTOGRAPHY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; ELECTRORETINOGRAPHY; FLUORESCENCE ANGIOGRAPHY; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PHYSIOLOGY; URINE; VISUAL ACUITY;

ADULT; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXOME; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; MALE; MEVALONIC ACID; MIDDLE AGED; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 84888002927     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2013.07.052     Document Type: Article

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