Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. [electronic resource]
Producer: 20090923Description: 1452-9 p. digitalISSN:- 1552-4833
- Adolescent
- Adult
- Amino Acid Sequence
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis
- Female
- Fibrillin-1
- Fibrillins
- Genetic Testing
- Humans
- Male
- Marfan Syndrome -- genetics
- Microfilament Proteins -- genetics
- Middle Aged
- Molecular Sequence Data
- Mutation, Missense
- Phenotype
- Protein Serine-Threonine Kinases -- genetics
- Receptor, Transforming Growth Factor-beta Type II
- Receptors, Transforming Growth Factor beta -- genetics
- Sequence Homology, Amino Acid
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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