A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria

Clinica Chimica Acta

Volumn 403, Issue 1-2, 2009, Pages 254-256

  Grasko, Jonathan M ^a   Hooper, Amanda J ^a   Brown, Jeffrey W ^b   McKnight, C James ^b   Burnett, John R ^a,c  

^a ROYAL PERTH HOSPITAL   (Australia)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Alkaptonuria; HGD; Homogentisate 1,2 dioxygenase; Homogentisic acid; Mutation; Structural model

Indexed keywords

ADULT; ALKAPTONURIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; EMERGENCY WARD; GENE; GENE MUTATION; GENE STRUCTURE; HETEROZYGOTE; HGD GENE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

ADULT; ALKAPTONURIA; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; HOMOGENTISATE 1,2-DIOXYGENASE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, QUATERNARY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 64849084016     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.03.032     Document Type: Article

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