New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.
Pifferi
M
M
Michelucci
A
A
Conidi
M E
ME
Cangiotti
A M
AM
Simi
P
P
Macchia
P
P
Boner
A L
AL
D000293:Adolescent; D000595:Amino Acid Sequence; D056444:Axonemal Dyneins / Q000235:genetics*; D054468:Axoneme / Q000473:pathology / Q000648:ultrastructure*; D001483:Base Sequence; D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000235:genetics* / Q000473:pathology*; D008297:Male; D020125:Mutation, Missense
D056444:Axonemal Dyneins; C465433:DNAH11 protein, human