Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: Large duplications are responsible for usher syndrome

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 11, 2010, Pages 5480-5485

  Aller, Elena ^a   Jaijo, Teresa ^a   García García, Gema ^a   Aparisi, M José ^a   Blesa, David ^b   Díaz Llopis, Manuel ^c   Ayuso, Carmen ^a,d   Millán, José M ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

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

^c CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^d Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; PROTOCADHERIN 15; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA MICROARRAY; GENE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; LONG INTERSPERSED REPEAT; LONG TERMINAL REPEAT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PCDH15 GENE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SHORT INTERSPERSED REPEAT; USHER SYNDROME;

AGED; BASE SEQUENCE; CADHERINS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE PROBES; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; USHER SYNDROMES;

EID: 79551710998     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5359     Document Type: Article

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