Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes

Journal of Investigative Dermatology

Volumn 129, Issue 3, 2009, Pages 553-563

  Li, Qiaoli ^a,b   Grange, Dorothy K ^b   Armstrong, Nicole L ^b   Whelan, Alison J ^b   Hurley, Maria Y ^c   Rishavy, Mark A ^d   Hallgren, Kevin W ^d   Berkner, Kathleen L ^d   Schurgers, Leon J ^e   Jiang, Qiujie ^a,b   Uitto, Jouni ^a,b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

^e MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; GAMMA GLUTAMYL HYDROLASE; OSTEOCALCIN; PROTHROMBIN;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING FACTOR DEFICIENCY; CARBOXYLATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME ACTIVITY; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; INFANT; MALE; MINERALIZATION; MISSENSE MUTATION; NULL ALLELE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; RECESSIVE GENE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARBON-CARBON LIGASES; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; MUTATION, MISSENSE; PSEUDOXANTHOMA ELASTICUM; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 59949086567     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.271     Document Type: Article

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