Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria

Rheumatology International

Volumn 32, Issue 6, 2012, Pages 1741-1746

  Al Sbou, Mohammed ^a  

^a MUTAH UNIVERSITY   (Jordan)

Author keywords

Dark urine; Homogentisic acid; Ochronosis

Indexed keywords

GENOMIC DNA; HOMOGENTISATE 1,2 DIOXYGENASE;

ADULT; ALKAPTONURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; EXON; EYE COLOR; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INBORN ERROR OF METABOLISM; JORDAN; KNEE PAIN; LOW BACK PAIN; MALE; MISSENSE MUTATION; NEPHROLITHIASIS; OCHRONOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; URINALYSIS; URINE COLOR;

ADULT; ALKAPTONURIA; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HOMOGENTISATE 1,2-DIOXYGENASE; HUMANS; JORDAN; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 84863865681     PISSN: 01728172     EISSN: 1437160X     Source Type: Journal    
DOI: 10.1007/s00296-011-1868-0     Document Type: Article

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