Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

HPMRS or Mabry syndrome is a heterogeneous glycosylphosphatidylinositol (GPI) anchor deficiency that is caused by an impairment of synthesis or maturation of the GPI‐anchor. The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mil...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo, Afawi, Zaid, Pendziwiat, Manuela, Abu‐Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise, Krawitz, Peter M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5084765/
https://ncbi.nlm.nih.gov/pubmed/27120253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23006
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