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ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
10.1093/hmg/8.9.1621
000082600300004
10441324
Ruiz-Perez
V. L.
author
Carter
S. A.
author
Healy
E.
author
Todd
C.
author
Rees
J. L.
author
Steijlen
P. M.
author
Carmichael
A. J.
author
Lewis
H. M.
author
Hohl
D.
author
Itin
P.
author
Vahlquist
A.
author
Gobello
T.
author
Mazzanti
C.
author
Reggazini
R.
author
Nagy
G.
author
Munro
C. S.
author
Strachan
T.
author
article
1999-09
Human Molecular Genetics
0964-6906
journal
8
9
1621-30
Calcium-Transporting ATPases/*genetics
Cells, Cultured
DNA Mutational Analysis
DNA Primers
Europe
Humans
Immunohistochemistry
Isoenzymes/genetics
Keratosis Follicularis/*genetics/pathology/psychology
*Mutation
Phenotype
Polymorphism, Single-Stranded Conformational
Skin/metabolism/*pathology
60_published
true
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Sep
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