Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years

Joint Bone Spine

Volumn 77, Issue 4, 2010, Pages 355-357

  Tóth, Kálmán ^a   Kiss Láaszló, Zsuzsanna ^a   Lénárt, Endre ^b   Juhász, Katalin ^c   Takács, Katalin ^d   Bender, Tamas ^e   Szabó, Janos ^a  

^a UNIVERSITY OF SZEGED   (Hungary)

^b 1st Department of Internal Medicine   (Hungary)

^c Rheumatology Outpatient Clinic of Kecskemét   (Hungary)

^d Rheumatology Outpatient Clinic of Kiskunhalas   (Hungary)

^e Polyclinic of the Hospitaller Brothers of St John of God in Budapest ^*  (Hungary)

Author keywords

Alkaptonuria; Allele specific PCR amplification; HGD mutation; Ochronosis

Indexed keywords

ALLELE; ARTHROPATHY; ARTHROSCOPY; ARTICLE; CALCIFICATION; CASE REPORT; CHONDROPATHY; EAR CARTILAGE; FAMILIAL DISEASE; GAS CHROMATOGRAPHY; GENOTYPE; HETEROZYGOTE; HIP OSTEOARTHRITIS; HUMAN; KETONURIA; MALE; MASS SPECTROMETRY; MISSENSE MUTATION; OCHRONOSIS; OSTEOPOROSIS; POLYMERASE CHAIN REACTION; SACROILIAC JOINT; SPONDYLOSIS; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUNGARY; MUTATION; PEDIGREE; SLOVAKIA;

FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMOGENTISATE 1,2-DIOXYGENASE; HUMANS; HUNGARY; JOINT DISEASES; MALE; MUTATION; OCHRONOSIS; PEDIGREE; SLOVAKIA;

HOMOGENTISATE 1,2 DIOXYGENASE;

EID: 77954623046     PISSN: 1297319X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jbspin.2010.03.007     Document Type: Article

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