Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies

Molecular Vision

Volumn 20, Issue , 2014, Pages 359-367

  Yang, Liping ^a   Wu, Lemeng ^a   Yin, Xiaobei ^b   Chen, Ningning ^a   Li, Genlin ^b   Ma, Zhizhong ^a  

^a PEKING UNIVERSITY THIRD HOSPITAL   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHINESE; CONTROLLED STUDY; CRUMBS HOMOLOG 1 GENE; EXOME CAPTURE TECHNOLOGY; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PROCEDURES; HEREDITARY EYE DISEASE ENRICHMENT PANEL; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATION RATE; PHENOTYPE; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SANGER SEQUENCING; SCHOOL CHILD; SEQUENCE ANALYSIS; YOUNG ADULT;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; EYE PROTEINS; FAMILY; FEMALE; FUNDUS OCULI; HETEROZYGOTE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; RETINAL DYSTROPHIES; RETINITIS PIGMENTOSA;

EID: 84897445684     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

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