Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. [electronic resource]
Producer: 20051128Description: 1503-13 p. digitalISSN:- 0964-6906
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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