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Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2010, Volume 77, Issue 5, pp. 453 - 463
Chao S-C, Chen J-S, Tsai C-H, Lin JY-M, Lin Y-J, Sun HS. Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.The... 
ERAD | exonic point mutation | alternative splicing | PTC | nMFS | NMFS | Alternative splicing | Exonic point mutation | HAPLOINSUFFICIENCY | 3'-SPLICE-SITES | PATHOGENESIS | HUMAN-DISEASE GENES | COMPUTATIONAL TOOLS | NONSENSE | SEQUENCE | GENETICS & HEREDITY | FIBRILLIN-1 | FBN1 MUTATIONS | MESSENGER-RNA DECAY | Humans | Endoplasmic Reticulum - metabolism | Molecular Sequence Data | Nucleotides - genetics | RNA Stability - drug effects | RNA Splice Sites - drug effects | Protein Processing, Post-Translational - drug effects | Base Sequence | Endoplasmic Reticulum - drug effects | RNA Splicing - genetics | Fatal Outcome | Female | Microfilament Proteins - genetics | Infant, Newborn | Cell Line | RNA Splicing - drug effects | Fibrillin-1 | Intracellular Space - drug effects | RNA Splice Sites - genetics | Exons - genetics | Fibrillins | Mutant Proteins - metabolism | Mutation - genetics | RNA Stability - genetics | Blotting, Western | Marfan Syndrome - genetics | Pregnancy | Leupeptins - pharmacology | Intracellular Space - metabolism | Codon, Nonsense - genetics | Microscopy, Fluorescence | Genetic disorders | Neonatal care | Genes | Marfan syndrome | Neonates | Marfan's syndrome | Connective tissue diseases | Exons | Nonsense mutation | Amino acids | Data processing | Lethality | Nucleotides | Fibrillin | Sun | Amino acid substitution | Molecular modelling | Etiology | Mutation | Endoplasmic reticulum | Splice junctions
Journal Article
Nature Chemical Biology, ISSN 1552-4450, 07/2015, Volume 11, Issue 7, pp. 511 - 517
Journal Article