Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

Human Mutation

Volumn 28, Issue 5, 2007, Pages 511-516

  Pomares, Esther ^a   Marfany, Gemma ^a   Brión, Ma José ^b   Carracedo, Angel ^b   Gonzàlez Duarte, Roser ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

Author keywords

Leber congenital amaurosis; Molecular diagnosis; Retinitis pigmentosa; RP; SNP genotyping

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CLINICAL ARTICLE; CONTROLLED STUDY; ETHNIC GROUP; FAMILY STUDY; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; LEBER CONGENITAL AMAUROSIS; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

GENES, RECESSIVE; GENOTYPE; HUMANS; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA;

EID: 34247562652     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20479     Document Type: Article

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