Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report

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Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report

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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25A13 gene, which encodes citrin protein expressed in the liver, have been identified as the genetic cause for NICCD. | Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report

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Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report

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Báo cáo khoa học: " Sequence analysis of the S1 glycoprotein gene of infectious bronchitis viruses: identification of a novel phylogenetic group in Korea"

Đang chuẩn bị liên kết để tải về tài liệu: Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report

Molecular cytogenetic identification of a novel hexaploid wheat–Thinopyrum intermedium partial amphiploid with high protein content

PGA: An R/Bioconductor package for identification of novel peptides using a customized database derived from RNA-Seq

A novel scan statistics approach for clustering identification and comparison in binary genomic data

Parallel identification of novel antimicrobial peptide sequences from multiple anuran species by targeted DNA sequencing

Reduced translation efficiency due to novel splicing variants in 5′ untranslated region and identification of novel cis-regulatory elements in canine and human BRCA2

Identification of a novel subgroup of endometrial cancer patients with loss of thyroid hormone receptor beta expression and improved survival

Identification of novel loci associated with maturity and yield traits in early maturity soybean plant introduction lines

Identification of PLA2G7 as a novel biomarker of diffuse large B cell lymphoma

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Báo cáo khoa học: " Sequence analysis of the S1 glycoprotein gene of infectious bronchitis viruses: identification of a novel phylogenetic group in Korea"

Đang chuẩn bị liên kết để tải về tài liệu:
Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report