CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 6, 2008, Pages 2709-2713

  Avila Fernandez, Almudena ^a   Riveiro Alvarez, Rosa ^a   Vallespin, Elena ^a   Wilke, Robert ^b   Tapias, Ignacio ^a   Cantalapiedra, Diego ^a   Aguirre Lamban, Jana ^a   Gimenez, Ascension ^a   Trujillo Tiebas, Maria Jose ^a   Ayuso, Carmen ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CERAMIDE KINASE; CERKL PROTEIN; UNCLASSIFIED DRUG; PHOSPHOTRANSFERASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FAMILY ASSESSMENT; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; OPHTHALMOSCOPY; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; VISUAL FIELD; DNA MICROARRAY; ELECTRORETINOGRAPHY; GENETICS; GENOTYPE; MIDDLE AGED; POINT MUTATION; POLYMERASE CHAIN REACTION; RECESSIVE GENE; SPAIN; VISUAL ACUITY;

ADULT; ELECTRORETINOGRAPHY; GENES, RECESSIVE; GENOTYPE; HUMANS; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POINT MUTATION; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; SPAIN; VISUAL ACUITY; VISUAL FIELDS;

EID: 47249096561     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-0865     Document Type: Article

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