Repository logo
 

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Published version
Peer-reviewed

Repository URI

https://www.repository.cam.ac.uk/handle/1810/276395

Repository DOI

https://doi.org/10.17863/CAM.23700
Thumbnail Image

Files

Published version (5.32 MB)

Type

Article

Change log

Authors

Jaeken, Jaak  ORCID logo  https://orcid.org/0000-0003-1571-9707
Salles, Isabelle  ORCID logo  https://orcid.org/0000-0001-7394-0587

Description

Keywords

NIHR BioResource, Humans, Keratoderma, Palmoplantar, Glycosylphosphatidylinositols, Membrane Proteins, Mutation, Adolescent, Male

Journal Title

Orphanet journal of rare diseases

Conference Name

Journal ISSN

1750-1172
1750-1172

Volume Title

12

Publisher

Publisher DOI

https://doi.org/10.1186/s13023-017-0654-9

Rights and licensing

Attribution 4.0 International
Except where otherwised noted, this item's license is described as Attribution 4.0 International

Collections

Scholarly Works - Haematology