Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Licastro, Danilo ^a   Mutarelli, Margherita ^b   Peluso, Ivana ^b   Neveling, Kornelia ^c   Wieskamp, Nienke ^c   Rispoli, Rossella ^b   Vozzi, Diego ^d   Athanasakis, Emmanouil ^d   D'Eustacchio, Angela ^d   Pizzo, Mariateresa ^b   D'Amico, Francesca ^e   Ziviello, Carmela ^b   Simonelli, Francesca ^e   Fabretto, Antonella ^d   Scheffer, Hans ^c   Gasparini, Paolo ^d   Banfi, Sandro ^b,e   Nigro, Vincenzo ^b,e  

^a Cluster in Biomedicine (CBM) scrl Genomics   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; EXOME; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MICROARRAY ANALYSIS; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING TECHNOLOGY; PILOT STUDY; POLYMERASE CHAIN REACTION; USHER SYNDROME; VISUAL FIELD;

CHILD, PRESCHOOL; EXOME; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; PILOT PROJECTS; SEQUENCE ANALYSIS, DNA; USHER SYNDROMES;

EID: 84865585969     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0043799     Document Type: Article

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