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oai:serval.unil.ch:BIB_E1B1DBECDA49
2024-03-23T03:06:40Z
serval:BIB_E1B1DBECDA49
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex
10.1038/sj.ejhg.5200292
000080125400004
10234505
Rugg
E. L.
author
Rachet-Prehu
M. O.
author
Rochat
A.
author
Barrandon
Y.
author
Goossens
M.
author
Lane
E. B.
author
Hovnanian
A.
author
article
1999-04
European Journal of Human Genetics
1018-4813
journal
7
3
293-300
*Alternative Splicing
Amino Acid Sequence
Animals
Binding Sites
Epidermolysis Bullosa Simplex/*genetics
Female
*Frameshift Mutation
Genetic Screening
Humans
Keratin-14
Keratins/*genetics
Male
Mice
Molecular Sequence Data
*Mutation
Pedigree
Sequence Deletion
Sequence Homology, Amino Acid
60_published
true
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Apr