Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

Clinical Genetics

Volumn 84, Issue 5, 2013, Pages 441-452

  Borras E ^a   de Sousa Dias, M ^a   Hernan, I ^a   Pascual, B ^a   Mane B ^a   Gamundi, Mj ^a   Delas B ^b   Carballo, M ^a  

^a Molecular Genetics Unit   (Spain)

^b HOSPITAL DE TERRASSA   (Spain)

Author keywords

Autosomal dominant retinitis pigmentosa; LR PCR; Next generation sequencing; Sequence capture

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA; CAPILLARY ELECTROPHORESIS; DNA SEQUENCE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA; LR-PCR; NEXT-GENERATION SEQUENCING; SEQUENCE CAPTURE;

BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; EYE PROTEINS; FEMALE; GENES, DOMINANT; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMP DEHYDROGENASE; INHERITANCE PATTERNS; MALE; MUTATION; OPEN READING FRAMES; PEDIGREE; RETINITIS PIGMENTOSA; RNA SPLICING;

EID: 84885842789     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12151     Document Type: Article

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