Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Navarro, Claire L

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. [electronic resource] - Human molecular genetics Jun 2005 - 1503-13 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0964-6906

10.1093/hmg/ddi159 doi


Abnormalities, Multiple--genetics
Base Sequence
Codon, Terminator
DNA Primers
Genes, Recessive
Humans
Immunohistochemistry
Infant, Newborn
Lamin Type A
Lipoproteins--genetics
Membrane Proteins--genetics
Metalloendopeptidases
Metalloproteases--genetics
Mutation
Nuclear Proteins--metabolism
Polymerase Chain Reaction
Protein Precursors--metabolism
Skin Diseases--genetics