Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. [electronic resource]
Producer: 20060502Description: e36 p. digitalISSN:- 1468-6244
- Cell Nucleus -- ultrastructure
- Child, Preschool
- DNA Mutational Analysis
- Female
- Heterozygote
- Humans
- Lamin Type A
- Lipoproteins -- genetics
- Membrane Proteins -- genetics
- Metalloendopeptidases
- Metalloproteases -- genetics
- Nuclear Proteins -- metabolism
- Phenotype
- Progeria -- diagnosis
- Protein Precursors -- metabolism
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Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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