Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

Human Genetics

Volumn 134, Issue 2, 2015, Pages 217-230

  Zhao, Li ^a   Wang, Feng ^a   Wang, Hui ^a   Li, Yumei ^a   Alexander, Sharon ^b   Wang, Keqing ^a   Willoughby, Colin E ^c   Zaneveld, Jacques E ^a   Jiang, Lichun ^a   Soens, Zachry T ^a   Earle, Philip ^b   Simpson, David ^b   Silvestri, Giuliana ^b   Chen, Rui ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^c UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN VIIA; PROTEIN; PROTEIN ABCA4; PROTEIN CACNA1F; PROTEIN CDH23; PROTEIN CNGB1; PROTEIN LRAT; PROTEIN NPHP4; PROTEIN PDE6B; PROTEIN PHYH; PROTEIN RP1; PROTEIN USH2A; PROTEIN VPS13B; RETINOSCHISIN; UNCLASSIFIED DRUG;

ARTICLE; FAMILY COUNSELING; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDEL MUTATION; INHERITANCE; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PATIENT CARE; PEDIGREE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM; CLINICAL TRIAL; FAMILY; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MOLECULAR PATHOLOGY; MUTATION;

FAMILY; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NORTHERN IRELAND; PATHOLOGY, MOLECULAR; RETINITIS PIGMENTOSA;

EID: 84925533189     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-014-1512-7     Document Type: Article

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