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Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like Phenotypes

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Year: 2008
Type: article
Study design: Case Report
Source: Journal of Investigative Dermatology
DOI: 10.1038/jid.2008.271
Authors: Qiaoli Li, Dorothy K. Grange, Nicole L. Armstrong, Alison J. Whelan, Maria Y. Hurley, Mark A. Rishavy, Kevin W. Hallgren, Kathleen L. Berkner, Leon J. Schurgers, Qiujie Jiang, Jouni Uitto
Institutions: Thomas Jefferson University, Washington University in St. Louis, Saint Louis University, Cleveland Clinic Lerner College of Medicine, Cleveland Clinic Research, Case Western Reserve University, Maastricht University
Language: English

Topic: Dermatological and Skeletal Disorders
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funders: Dermatology Foundation, National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases
Awards: G1423756172, Biochemistry and Morphology of Connective Tissue, G3988473699, Structure and Function of the Gamma Carboxylase, Molecular Genetics of Familial Tumoral Calcinosis
OpenAlex ID: W2001568974
FWCI: 4.19
Cites: 58
Cited by: 104
Related to: 10
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