A novel LMX1B nonsense mutation in a family with nail-patella syndrome.
Tomoko
T
Oshimo
Kazuyoshi
K
Fukai
Nobuhiko
N
Higashi
Toshio
T
Kitano
Yuuki
Y
Imai
Haruo
H
Shintaku
Masamitsu
M
Ishii
D002675:Child, Preschool; D005190:Family; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D060850:LIM-Homeodomain Proteins; D009154:Mutation; D009261:Nail-Patella Syndrome / Q000235:genetics* / Q000473:pathology; D009262:Nails / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors