Case report: biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of

HIGHLIGHTS

• who: . and colleagues from the University of Catania, Italy have published the research work: Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of, in the Journal: (JOURNAL)
• what: The authors report the clinical phenotypes and molecular features of two patients with Marfan syndrome with recurrent fibrillin-1 cysteine mutations in the EGF and cbEGF domains.
• how: The LC-MS/MS raw data were analyzed using MaxQuant for peptide identification against the reference proteome set of Homo sapiens from Uniprot (v1.6.2.10) (Costanzo . . .
  

   

  

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