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Literature summary for 1.3.1.21 extracted from

  • Cardoso, M.L.; Balreia, A.; Martins, E.; Nunes, L.; Cabral, A.; Marques, M.; Reis Lima, M. ; Marques, J.S. ; Medeira, A. ; Cordeiro, I. ; Pedro, S. ; Mota, M.C.; Dionisi-Vici, C.; Santorelli, F.M.; Jakobs, C.; Clayton, P.T.; Vilarinho, L.
    Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome an report of three new mutations in DHCR7 (2005), Mol. Genet. Metab., 85, 228-235.
    View publication on PubMed
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Protein Variants

Protein Variants Comment Organism
F174S enzyme mutation in patients with Smith-Lemli-Opitz syndrome Homo sapiens
H301R enzyme mutation in patients with Smith-Lemli-Opitz syndrome Homo sapiens
additional information identification of seven distinct enzyme mutations in patients with Smith-Lemli-Opitz syndrome Homo sapiens
N274K enzyme mutation in patients with Smith-Lemli-Opitz syndrome Homo sapiens
Q98X enzyme mutation in patients with Smith-Lemli-Opitz syndrome Homo sapiens
T93M enzyme mutation in patients with Smith-Lemli-Opitz syndrome Homo sapiens
W182L enzyme mutation in patients with Smith-Lemli-Opitz syndrome Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 patients with Smith-Lemli-Opitz syndrome
-