Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers. [electronic resource]
Producer: 20140116Description: 1000-4 p. digitalISSN:- 1472-4146
- Acro-Osteolysis -- genetics
- Adult
- Amino Acid Substitution
- Arginine -- genetics
- Biopsy
- Case-Control Studies
- Child
- Child, Preschool
- Egypt
- Female
- Heterozygote
- Homozygote
- Humans
- Lamin Type A -- genetics
- Leucine -- genetics
- Lipodystrophy -- genetics
- Male
- Mandible -- abnormalities
- Microscopy, Electron, Transmission
- Mothers
- Mutation, Missense
- Pedigree
- Progeria -- genetics
- Skin -- ultrastructure
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Publication Type: Letter
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