Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Huang, Yukan ^a   Zhang, Jing ^a   Li, Chang ^a   Yang, Guohua ^b   Liu, Mugen ^a   Wang, Qing K ^a   Tang, Zhaohui ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b WUHAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; EYS PROTEIN; GLUTAMIC ACID; UNCLASSIFIED DRUG; EYE PROTEIN; EYS PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHINESE; CHROMOSOMAL LOCALIZATION; CONSANGUINITY; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; RETINITIS PIGMENTOSA; STOP CODON; AMINO ACID SEQUENCE; ASIAN; CHEMISTRY; CHINA; ELECTRORETINOGRAPHY; EXON; GENETICS; HOMOZYGOTE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; RECESSIVE GENE;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; RETINITIS PIGMENTOSA;

EID: 77955297553     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-121     Document Type: Article

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