期刊
JOURNAL OF PEDIATRICS
卷 221, 期 -, 页码 251-254出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2020.01.064
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资金
- Japan Agency for Medical Research and Development [JP18ek0109301]
- Keio University Academic Development Funds for Individual Research
- Japan Society for the Promotion of Science [JP19K17342]
We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.
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