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