TY  - GEN
AU  - Gruber,Robert
AU  - Janecke,Andreas R
AU  - Fauth,Christine
AU  - Utermann,Gerd
AU  - Fritsch,Peter O
AU  - Schmuth,Matthias
TI  - Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris
SN  - 1018-4813
PY  - 2007///0316
KW  - Austria
KW  - Female
KW  - Filaggrin Proteins
KW  - Gene Frequency
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Ichthyosis Vulgaris
KW  - genetics
KW  - Intermediate Filament Proteins
KW  - analysis
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Skin
KW  - chemistry
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.ejhg.5201742
ER  -