Biallelic mutations in PLA2G5, encoding group v phospholipase A 2, cause benign fleck retina

American Journal of Human Genetics

Volumn 89, Issue 6, 2011, Pages 782-791

  Sergouniotis, Panagiotis I ^a,b   Davidson, Alice E ^a   MacKay, Donna S ^a   Lenassi, Eva ^a,b   Li, Zheng ^a   Robson, Anthony G ^a,b   Yang, Xu ^c   Kam, Jaimie Hoh ^a   Isaacs, Timothy W ^d   Holder, Graham E ^a,b   Jeffery, Glen ^a   Beck, Jonathan A ^e   Moore, Anthony T ^a,b   Plagnol, Vincent ^f   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c BGI SHENZHEN   (China)

^d LIONS EYE INSTITUTE   (Australia)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN; PHOSPHOLIPASE A2 GROUP V;

ADULT; ARTICLE; BENIGN FLECK RETINA; CHILD; CLINICAL ARTICLE; CONSANGUINITY; EXOME; FEMALE; GENE; GENE MAPPING; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PHAGOCYTOSIS; PLA2G5 GENE; PRIORITY JOURNAL; RETINA DISEASE; SCHOOL CHILD;

ADULT; AGED, 80 AND OVER; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CONSANGUINITY; EYE ABNORMALITIES; FEMALE; GENETIC ASSOCIATION STUDIES; GROUP V PHOSPHOLIPASES A2; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TRANSPORT; RETINA;

EID: 83555174511     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.11.004     Document Type: Article

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