Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.
Center for Human Genetics, Bioscientia, Ingelheim, Germany.
Jutta
J
Busch
Center for Human Genetics, Bioscientia, Ingelheim, Germany.
Valeska
V
Frank
Center for Human Genetics, Bioscientia, Ingelheim, Germany.
Nadine
N
Bachmann
Department of Dermatology, Kyoto University, Kyoto, Japan.
Atoshi
A
Otsuka
Department of Dermatology, University Hospital Münster, Münster, Germany.
Vinzenz
V
Oji
Department of Pathology, University Hospital Münster, Münster, Germany.
Dieter
D
Metze
Clinical Genetics Unit, Christian Medical College, Vellore, India.
Krati
K
Shah
Clinical Genetics Unit, Christian Medical College, Vellore, India.
Sumita
S
Danda
Department of Pediatrics, University Marburg, Marburg, Germany.
Bernhard
B
Watzer
Department of Dermatology, University Hospital Münster, Münster, Germany.
Heiko
H
Traupe
Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Human Genetics, University of Cologne, Cologne, Germany.
Hanno J
HJ
Bolz
Department of Dermatology, Kyoto University, Kyoto, Japan.
Kenji
K
Kabashima
Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Human Genetics, RWTH Aachen University, Aachen, Germany; Center for Clinical Research, University Hospital Freiburg, Freiburg, Germany. Electronic address: carsten.bergmann@bioscientia.de.
Carsten
C
Bergmann
D000328:Adult; D000595:Amino Acid Sequence; D015897:Comorbidity; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009264:Nails, Malformed / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D027361:Organic Anion Transporters / Q000737:chemistry / Q000235:genetics*; D010004:Osteoarthropathy, Primary Hypertrophic / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D014034:Toes / Q000002:abnormalities
D027361:Organic Anion Transporters; C503526:SLCO2A1 protein, human