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Literature summary for 2.4.1.109 extracted from

  • Messina, S.; Mora, M.; Pegoraro, E.; Pini, A.; Mongini, T.; DAmico, A.; Pane, M.; Aiello, C.; Bruno, C.; Biancheri, R.; Berardinelli, A.; Boito, C.; Farina, L.; Morandi, L.; Moroni, I.; Pezzani, R.; Pichiecchio, A.; Ricci, E.; Ruggieri, A.; Saredi, S.; Scuderi, C.; Tessa, A.; Toscano, A.; Tortorella G; Trevisan C.P.; Uggetti C.; Santorelli F.M.; Bertini E.; Mercuri E.
    POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study (2008), Neuromuscul. Disord., 18, 565-571.
    View publication on PubMed

Application

Application Comment Organism
medicine POMT1 mutations in patients with congenital muscular dystrophy (Italian population) Homo sapiens
medicine POMT2 mutations in patients with congenital muscular dystrophy (Italian population) Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9UKY4
-
-
Homo sapiens Q9Y6A1
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Synonyms

Synonyms Comment Organism
POMT1
-
Homo sapiens
POMT2
-
Homo sapiens
protein O-mannosyl-transferase 1
-
Homo sapiens
protein O-mannosyl-transferase 2
-
Homo sapiens