A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration

Molecular Vision

Volumn 14, Issue , 2008, Pages 1960-1964

  Ali, Manir ^a   Ramprasad, Lakshmi ^b   Soumittra, Nagasamy ^b   Mohamed, Moin D ^a,c   Jafri, Hussain ^d   Rashid, Yasmin ^e   Danciger, Michael ^f   McKibbin, Martin ^a   Kumaramanickavel, Govindasamy ^b   Inglehearn, Chris F ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b VISION RESEARCH FOUNDATION   (India)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d Gene Tech Lab 146/1   (Pakistan)

^e KING EDWARD MEDICAL UNIVERSITY   (Pakistan)

^f LOYOLA MARYMOUNT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CERAMIDE KINASE; CERAMIDE KINASE LIKE PROTEIN; GENOMIC DNA; RESTRICTION ENDONUCLEASE; SERINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD; CHROMOSOME 2; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; EYE EXAMINATION; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; PAKISTAN; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; RETINA DEGENERATION; SEQUENCE ANALYSIS; VISION; VISUAL ACUITY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR LOCALIZATION SIGNALS; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RETINAL DEGENERATION;

EID: 55349134161     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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