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

Itzkovitz, Brandon; Jiralerspong, Sarn; Nimmo, Graeme; Loscalzo, Melissa; Horovitz, Dafne D G; Snowden, Ann; Moser, Ann; Steinberg, Steve; Braverman, Nancy

Itzkovitz, Brandon; Jiralerspong, Sarn; Nimmo, Graeme; Loscalzo, Melissa; Horovitz, Dafne D G; Snowden, Ann; Moser, Ann; Steinberg, Steve; Braverman, Nancy.

Affiliation

Itzkovitz B; Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada.

Hum Mutat ; 33(1): 189-97, 2012 Jan.

Article in En | MEDLINE | ID: mdl-21990100

Subject(s)

Acyltransferases/genetics; Alkyl and Aryl Transferases/genetics; Chondrodysplasia Punctata, Rhizomelic/genetics; Mutation; Acyltransferases/metabolism; Alkyl and Aryl Transferases/metabolism; Base Sequence; Cell Line; Child; Child, Preschool; Chondrodysplasia Punctata, Rhizomelic/enzymology; DNA Mutational Analysis; Female; Genetic Association Studies; Humans; Male; Molecular Sequence Data; Pedigree; Peroxisomes/genetics; Peroxisomes/metabolism; Plasmalogens/genetics; Plasmalogens/metabolism; RNA, Messenger/biosynthesis; Severity of Illness Index

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acyltransferases / Chondrodysplasia Punctata, Rhizomelic / Alkyl and Aryl Transferases / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2012 Type: Article Affiliation country: Canada

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