Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: Compound heterozygosity for mutations in the GGCX gene

American Journal of Pathology

Volumn 174, Issue 2, 2009, Pages 534-540

  Li, Qiaoli ^a   Schurgers, Leon J ^b   Smith, Ann C M ^c   Tsokos, Maria ^d   Uitto, Jouni ^a   Cowen, Edward W ^d  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR; CYCLOPHOSPHAMIDE; IMMUNOGLOBULIN; MATRIX GLA PROTEIN; MULTIDRUG RESISTANCE PROTEIN 6; PHYTOMENADIONE; PREDNISONE; REGULATOR PROTEIN; UNCLASSIFIED DRUG; VITAMIN K DEPENDENT CARBOXYLASE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CARBOXYLATION; CASE REPORT; CLINICAL FEATURE; COMORBIDITY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; SYSTEMIC LUPUS ERYTHEMATOSUS; VITAMIN K DEFICIENCY;

EID: 59649091261     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2009.080865     Document Type: Article

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