A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. [electronic resource]
Producer: 20151208Description: 465-74 p. digitalISSN:- 1537-6605
- Acro-Osteolysis -- genetics
- DNA, Complementary -- genetics
- Female
- Genes, Dominant -- genetics
- HeLa Cells
- Humans
- Limb Deformities, Congenital -- genetics
- Male
- Mutation, Missense -- genetics
- Phosphorylation
- Point Mutation -- genetics
- Progeria -- genetics
- Receptor, Platelet-Derived Growth Factor beta -- genetics
- Signal Transduction -- genetics
- Time Factors
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
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