Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1
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DOI: 10.1038/s10038-019-0600-x
Abstract: Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosome inactivation, it… read more here.
Keywords: plp1; single nucleotide; deletion plp1; female patient ... See more keywords
HLA‐C*07:1044N a novel allele, caused by a single nucleotide deletion in exon 3 of HLA‐C*07:01:01:01
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DOI: 10.1111/tan.14970
Abstract: HLA‐C*07:1044N differs from HLA‐C*07:01:01:01 by a single nucleotide deletion in exon 3, codon 124, nt. 442. read more here.
Keywords: hla; deletion exon; hla 1044n; single nucleotide ... See more keywords
Identification of a novel B allele with a nucleotide deletion (c.3_4 del G) in the ABO gene associated with a Bx phenotype individual
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DOI: 10.1111/trf.15104
Abstract: A novel B allele was characterized by a nucleotide deletion (c.3_4 del G) in exon 1 of the ABO gene identified in a Chinese individual with B subtype. ABO blood group antigens play an important… read more here.
Keywords: novel allele; abo gene; nucleotide deletion; deletion del ... See more keywords