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Cysteine Substitutions in Epidermal Growth Factor–Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes
Fibrillin-1 (FBN1) contains 47 epidermal growth factor (EGF)–like domains characterized by six conserved cysteine residues. Cysteine substitutions that disrupt one of the three disulfide bonds are frequent causes of Marfan syndrome (MFS). We identified 19 new substitutions involving cysteine residue...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
1999
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288233/ https://ncbi.nlm.nih.gov/pubmed/10486319 |
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