The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
About this item
Full title
Author / Creator
Coughlin, Curtis R. , Swanson, Michael A. , Kronquist, Kathryn , Acquaviva, Cécile , Hutchin, Tim , Rodríguez-Pombo, Pilar , Väisänen, Marja-Leena , Spector, Elaine , Creadon-Swindell, Geralyn , Brás-Goldberg, Ana M. , Rahikkala, Elisa , Moilanen, Jukka S. , Mahieu, Vincent , Matthijs, Gert , Bravo-Alonso, Irene , Pérez-Cerdá, Celia , Ugarte, Magdalena , Vianey-Saban, Christine , Scharer, Gunter H. and Van Hove, Johan L.K.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
The study’s purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH).
Genetic results, parental phase, ethnic origin, and gender data were collected from subjects suspected to have classic NKH. Mutations were compared with those in the existing literature and to the population frequency from the Exome Ag...
Alternative Titles
Full title
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Authors, Artists and Contributors
Author / Creator
Swanson, Michael A.
Kronquist, Kathryn
Acquaviva, Cécile
Hutchin, Tim
Rodríguez-Pombo, Pilar
Väisänen, Marja-Leena
Spector, Elaine
Creadon-Swindell, Geralyn
Brás-Goldberg, Ana M.
Rahikkala, Elisa
Moilanen, Jukka S.
Mahieu, Vincent
Matthijs, Gert
Bravo-Alonso, Irene
Pérez-Cerdá, Celia
Ugarte, Magdalena
Vianey-Saban, Christine
Scharer, Gunter H.
Van Hove, Johan L.K.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_01848411v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_01848411v1
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.74
