XPR1 mutations are a rare cause of primary familial brain calcification
XPR1 mutations are a rare cause of primary familial brain calcification
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Mutations in
XPR1
, a gene encoding an inorganic phosphate exporter, have recently been identified in patients with primary familial brain calcification (PFBC). Using Sanger sequencing, we screened
XPR1
in 18 unrelated patients with PFBC and no
SLC20A2
,
PDGFB
, or
PDGFRB
mutation.
XPR1
variants were tested in an...
Alternative Titles
Full title
XPR1 mutations are a rare cause of primary familial brain calcification
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02109454v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02109454v1
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-016-8166-4
