title: A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts.
authors.forename: Jihong
authors.initials: J
authors.lastname: Hao
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
authors.forename: Xin
authors.initials: X
authors.lastname: Guo
authors.forename: Rui
authors.initials: R
authors.lastname: Hu
authors.forename: Weiguo
authors.initials: W
authors.lastname: Gao
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics / Q000502:physiology; D002386:Cataract / Q000150:complications / Q000235:genetics*; D005191:Family Characteristics; D018698:Glutamic Acid / Q000235:genetics; D034381:Hearing Loss / Q000150:complications / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D008239:Lysine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020409:Molecular Motor Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000502:physiology; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D012720:Severity of Illness Index
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018698:Glutamic Acid; D018995:Myosin Heavy Chains; D008239:Lysine