Syndromic choroideremia: Sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 9, 2008, Pages 4096-4104

  Poloschek, Charlotte M ^a   Kloeckener Gruissem, Barbara ^b,c   Hansen, Lutz L ^a   Bach, Michael ^a   Berger, Wolfgang ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c ETH ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GENOMIC DNA; RAB ESCORT PROTEIN 1; UNCLASSIFIED DRUG; CHM PROTEIN, HUMAN; DNA; PRIMER DNA; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; CHILD; CHOROIDEREMIA; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DNA DETERMINATION; DNA FLANKING REGION; EYE FUNDUS; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HEARING LOSS; HETEROZYGOTE; HUMAN; LOW FREQUENCY NOISE; MALE; MARTIN PROBST DEAFNESS MENTAL RETARDATION SYNDROME; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MOTOR RETARDATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; FAMILY; GENETICS; HEARING IMPAIRMENT; HETEROZYGOTE DETECTION; PEDIGREE; RETINITIS PIGMENTOSA; SYNDROME; X CHROMOSOME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHOROIDEREMIA; CHROMOSOMES, HUMAN, X; DEAFNESS; DNA; DNA PRIMERS; FAMILY; FEMALE; HEARING LOSS; HETEROZYGOTE DETECTION; HUMANS; MALE; MENTAL RETARDATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; SEQUENCE DELETION; SYNDROME;

EID: 53149135455     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2044     Document Type: Article

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