Molecular genetics of pseudoxanthoma elasticum

Experimental Dermatology

Volumn 10, Issue 4, 2001, Pages 221-228

  Ringpfeil, F ^a   Pulkkinen, L ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Connective tissue diseases; Heritable skin disorder; Mutation detection

Indexed keywords

ABC TRANSPORTER; MULTIDRUG RESISTANCE PROTEIN; MULTIDRUG RESISTANCE PROTEIN 6; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE INHERITANCE; CALCIFICATION; CARDIOVASCULAR SYSTEM; CHROMOSOME 16P; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; DNA DETERMINATION; ELASTIC FIBER; ENVIRONMENTAL FACTOR; EYE; FAMILY; GENE; GENE DELETION; GENE LOCUS; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HERITABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; KIDNEY; LIVER; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; PHENOTYPE; PRENATAL SCREENING; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN STRUCTURE, FUNCTION AND VARIABILITY; PSEUDOXANTHOMA ELASTICUM; RECURRENCE RISK; REVIEW; SEQUENCE ANALYSIS; SKIN;

ATP-BINDING CASSETTE TRANSPORTERS; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HUMANS; MOLECULAR BIOLOGY; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PSEUDOXANTHOMA ELASTICUM; STRUCTURE-ACTIVITY RELATIONSHIP; VARIATION (GENETICS);

EID: 0034878067     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2001.100401.x     Document Type: Review

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