Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome. [electronic resource]
Producer: 20100914Description: 453-63 p. digitalISSN:- 1399-0004
- Base Sequence
- Blotting, Western
- Cell Line
- Codon, Nonsense -- genetics
- Endoplasmic Reticulum -- drug effects
- Exons -- genetics
- Fatal Outcome
- Female
- Fibrillin-1
- Fibrillins
- Humans
- Infant, Newborn
- Intracellular Space -- drug effects
- Leupeptins -- pharmacology
- Marfan Syndrome -- genetics
- Microfilament Proteins -- genetics
- Microscopy, Fluorescence
- Molecular Sequence Data
- Mutant Proteins -- metabolism
- Mutation -- genetics
- Nucleotides -- genetics
- Pregnancy
- Protein Processing, Post-Translational -- drug effects
- RNA Splice Sites -- drug effects
- RNA Splicing -- drug effects
- RNA Stability -- drug effects
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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