A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
Ichikawa
S
S
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA. ichikawa@iupui.edu
Imel
E A
EA
Kreiter
M L
ML
Yu
X
X
Mackenzie
D S
DS
Sorenson
A H
AH
Goetz
R
R
Mohammadi
M
M
White
K E
KE
Econs
M J
MJ
D000293:Adolescent; D002114:Calcinosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020134:Catalytic Domain / Q000235:genetics; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005966:Glucuronidase / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D054559:Hyperphosphatemia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D000090265:Klotho Proteins; D020125:Mutation, Missense / Q000235:genetics*; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics; D010710:Phosphates / Q000378:metabolism; D011485:Protein Binding / Q000235:genetics; D017468:Receptors, Fibroblast Growth Factor / Q000378:metabolism; D014807:Vitamin D / Q000378:metabolism; D000097763:Polypeptide N-acetylgalactosaminyltransferase
D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors; D005966:Glucuronidase; D000090265:Klotho Proteins; D017350:N-Acetylgalactosaminyltransferases; D010710:Phosphates; D017468:Receptors, Fibroblast Growth Factor; D014807:Vitamin D; D000097763:Polypeptide N-acetylgalactosaminyltransferase