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Literature summary for 2.7.10.1 extracted from

  • Muenke, M.; Schell, U.; Hehr, A.; Robin, N.H.; Losken, H.W.; Schinzel, A.; Pulleyn, L.J.; Rutland, P.; Reardon, W.; Malcolm, S.; et al.
    A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome (1994), Nat. Genet., 8, 269-274.
    View publication on PubMed
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mutations in the fibroblast growth factor receptor-1 gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, is identified in all affected members of five unrelated PS families but not in any unaffected individuals ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P11362
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information mutations in the fibroblast growth factor receptor-1 gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, is identified in all affected members of five unrelated PS families but not in any unaffected individuals Homo sapiens ?
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 ?

Synonyms

Synonyms Comment Organism
basic fibroblast growth factor receptor 1
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 Homo sapiens