Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

Journal of Medical Genetics

Volumn 42, Issue 12, 2005, Pages 881-892

  Chassaing, N ^a   Martin, L ^b   Calvas, P ^a   Le Bert, M ^c   Hovnanian, Alain ^a  

^a CHU PURPAN   (France)

^b Porte Madeleine Hospital   (France)

^c CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER C6; BETA GLOBIN; UNCLASSIFIED DRUG;

CARDIOVASCULAR DISEASE; CLINICAL FEATURE; CLINICAL GENETICS; CORRELATION ANALYSIS; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ELASTIC FIBER; EYE DISEASE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MINERALIZATION; MISSENSE MUTATION; MOLECULAR GENETICS; MUCOSAL BLEEDING; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PERIPHERAL OCCLUSIVE ARTERY DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; PSEUDOXANTHOMA ELASTICUM; RETINA; REVIEW; SKIN DISCOLORATION; SKIN MANIFESTATION;

ADENOSINE TRIPHOSPHATE; CODON, NONSENSE; EXONS; EXTRACELLULAR MATRIX; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; MODELS, GENETIC; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PSEUDOXANTHOMA ELASTICUM; SKIN;

EID: 28844498292     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.030171     Document Type: Review

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