Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient

Background. Hereditary coproporphyria (HCP) is a rare autosomal dominant disorder caused by a partial deficiency of coproporphyrinogen III oxidase (CPOX), and systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic predisposition. SLC7A7 (solute carrier family 7 member 7) m...

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Veröffentlicht in:	BioMed research international 2022, Vol.2022, p.9096999-7
Hauptverfasser:	Liu, Anlei, Zhou, Lingli, Zhu, Huadong, Li, Yi, Yang, Jing
Format:	Artikel
Sprache:	eng
Schlagworte:	Abdomen Antibodies Autoimmune diseases Back pain Biomedical research Cancer therapies Chronic conditions Diagnosis Disease Enzymes Exome sequencing Family medical history Gene expression Genomes Glucose Health aspects Hereditary diseases Hyponatremia Intestinal obstruction Lung cancer Lupus Menstruation Mutation Pain Patient outcomes Porphyria Proteins Splicing Systemic lupus erythematosus Tachycardia Tuberculosis Vomiting
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