Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. [electronic resource]
Producer: 20100217Description: 524-34 p. digitalISSN:- 1399-0004
- Adult
- Base Sequence
- DNA Mutational Analysis
- Family
- Family Characteristics
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation -- genetics
- Mutation, Missense -- genetics
- Neurofibromatosis 1 -- complications
- Neurofibromin 1 -- genetics
- Noonan Syndrome -- complications
- Open Reading Frames -- genetics
- Pedigree
- Protein Structure, Secondary
- p120 GTPase Activating Protein -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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