Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

Human Mutation

Volumn 33, Issue 1, 2012, Pages 189-197

  Itzkovitz, Brandon ^a   Jiralerspong, Sarn ^a   Nimmo, Graeme ^a   Loscalzo, Melissa ^b   Horovitz, Dafne D G ^c   Snowden, Ann ^d   Moser, Ann ^d   Steinberg, Steve ^d,e   Braverman, Nancy ^a,f  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

^c INSTITUTO OSWALDO CRUZ   (Brazil)

^d KENNEDY KRIEGER INSTITUTE   (United States)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f MCGILL UNIVERSITY   (Canada)

Author keywords

AGPS; GNPAT; Peroxisome disease; Plasmalogen; RCDP

Indexed keywords

AGPS PROTEIN; GNPAT PROTEIN; PEROXISOME PROLIFERATOR; PEROXISOME TRANSPORTER 7; PLASMALOGEN; UNCLASSIFIED DRUG;

ARTICLE; CELL LINE; CHONDRODYSPLASIA PUNCTATA; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; LIPOGENESIS; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION;

ACYLTRANSFERASES; ALKYL AND ARYL TRANSFERASES; BASE SEQUENCE; CELL LINE; CHILD; CHILD, PRESCHOOL; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PEROXISOMES; PLASMALOGENS; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX;

EID: 84857686866     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21623     Document Type: Article

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