Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

Genetics in Medicine

Volumn 17, Issue 4, 2015, Pages 271-278

  Huang, Xiu Feng ^a   Huang, Fang ^a   Wu, Kun Chao ^a   Wu, Juan ^a   Chen, Jie ^a   Pang, Chi Pui ^b   Lu, Fan ^a   Qu, Jia ^a   Jin, Zi Bing ^a  

^a EYE HOSPITAL OF WENZHOU MEDICAL UNIVERSITY   (China)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

exome sequencing; genotype phenotype correlations; novel mutations; retinal dystrophy

Indexed keywords

MICRORNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BIOINFORMATICS; CHILD; CHINESE; CHROMOSOME; COHORT ANALYSIS; DISEASE DURATION; EXOME; FAMILY; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JOUBERT SYNDROME; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; NIGHT BLINDNESS; ONSET AGE; PROTEIN FUNCTION; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; STARGARDT DISEASE; USHER SYNDROME; VISUAL ACUITY; X CHROMOSOMAL INHERITANCE; AGED; ALLELE; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MALE; MIDDLE AGED; PATHOLOGY; PEDIGREE; RETINAL DYSTROPHIES;

ADULT; AGED; ALLELES; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; RETINAL DYSTROPHIES; RETINITIS PIGMENTOSA;

EID: 84926506187     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.138     Document Type: Article

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