Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family

Archives of Ophthalmology

Volumn 127, Issue 8, 2009, Pages 1077-1078

  Tang, Zhaohui ^b   Wang, Zhaoxiang ^b   Wang, Zhi ^b   Ke, Tie ^b   Wang, Qing Kenneth ^b   Liu, Mugen ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CERAMIDE KINASE; DNA;

ADULT; AUTOSOMAL RECESSIVE DISORDER; CERKL GENE; CHINESE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DNA SEQUENCE; FAMILY STUDY; GENE; GENE LOCUS; GENE MUTATION; HUMAN; LETTER; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CONSANGUINITY; EXONS; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 68549094578     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2009.207     Document Type: Letter

References (6)

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