Current mutation discovery approaches in Retinitis Pigmentosa

Vision Research

Volumn 75, Issue , 2012, Pages 117-129

  Anasagasti, Ander ^a   Irigoyen, Cristina ^c   Barandika, Olatz ^a   López de Munain, Adolfo ^a,b,c,d   Ruiz Ederra, Javier ^a  

^a BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^c HOSPITAL DONOSTIA   (Spain)

^d UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

Ciliopathy; Cone; Next Generation Sequencing; Photoreceptor; Rod

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL PRACTICE; COPY NUMBER VARIATION; DNA MICROARRAY; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HERITABILITY; HETEROZYGOSITY; HIGH RESOLUTION MELTING ANALYSIS; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME PROJECT; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYROSEQUENCING; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME LINKAGE;

EID: 84871767173     PISSN: 00426989     EISSN: 18785646     Source Type: Journal    
DOI: 10.1016/j.visres.2012.09.012     Document Type: Article

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