Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing

Human Mutation

Volumn 33, Issue 4, 2012, Pages 660-664

  Seifert, Wenke ^a   Kühnisch, Jirko ^a,b   Tüysüz, Beyhan ^c   Specker, Christof ^d   Brouwers, Ad ^e   Horn, Denise ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c ISTANBUL UNIVERSITY   (Turkey)

^d Eye Hospital   (Germany)

^e GELDERSE VALLEI HOSPITAL   (Netherlands)

Author keywords

Digital clubbing; Primary hypertrophic osteoarthropathy; Prostaglandin; SLCO2A1

Indexed keywords

15 HYDROXYPROSTAGLANDIN DEHYDROGENASE; PROSTAGLANDIN; PROSTAGLANDIN E2; PROSTAGLANDIN TRANSPORTER; PROTEIN; SLC02A1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLUBBING FINGERS; CONSANGUINEOUS MARRIAGE; FAMILY; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; METABOLIC CLEARANCE RATE; NUCLEOTIDE SEQUENCE; OSTEOARTHROPATHY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CONSANGUINITY; DINOPROSTONE; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; HYDROXYPROSTAGLANDIN DEHYDROGENASES; MALE; MUTATION; MUTATION, MISSENSE; ORGANIC ANION TRANSPORTERS; OSTEOARTHROPATHY, SECONDARY HYPERTROPHIC; PEDIGREE;

EID: 84858299177     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22042     Document Type: Article

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