GMPPB
GDP-mannose pyrophosphorylase B
Ассоциированные заболевания
Герминативная мутация (причина)5
Congenital muscular dystrophy with cerebellar involvementORPHA:370959
→Congenital muscular dystrophy with intellectual disabilityORPHA:370968
→GMPPB-related limb-girdle muscular dystrophy R19ORPHA:363623
→Congenital myasthenic syndrome with glycosylation defectORPHA:353327
→Muscle-eye-brain diseaseORPHA:588
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