Homozygosity mapping and whole-genome sequencing links a missense mutation in POMGNT1 to autosomal recessive retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 57, Issue 8, 2016, Pages 3601-3609

  Wang, Nana Hsiang Hua ^a,b   Chen, Shih Jen ^b,c   Yang, Chi Fan ^a   Chen, Hui Wen ^a   Chuang, Hui Ping ^a   Lu, Yung Hsiu ^b,c   Chen, Chien Hsiun ^a   Wu, Jer Yuarn ^a   Niu, Dau Ming ^b,c   Chen, Yuan Tsong ^a  

^a INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Homozygosity mapping; Mutation screening; Next generation sequencing; POMGNT1; Retinitis pigmentosa

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FUNDUS CAMERA; GENE MAPPING; GENETIC HETEROGENEITY; GENOME ANALYSIS; GENOTYPE; GLYCOSYLATION; HAN CHINESE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MUSCULAR DYSTROPHY; NEXT GENERATION SEQUENCING; NIGHT BLINDNESS; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; WHOLE GENOME SEQUENCING; ADOLESCENT; AGED; CHROMOSOMAL MAPPING; CONSANGUINITY; FEMALE; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; MALE; MIDDLE AGED; MISSENSE MUTATION; PROCEDURES; YOUNG ADULT;

N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE;

ADOLESCENT; ADULT; AGED; CHILD; CHROMOSOME MAPPING; CONSANGUINITY; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 84978858649     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.16-19463     Document Type: Article

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