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Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1→p15.4

1 Feb 1991

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2004772
DOI: 10.1016/0888-7543(91)90246-b

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Related research

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Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1→p15.4PMID 2004772Read ↗

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)Semantic proximity Read ↗

Evolutionary conservation analysis of human sphingomyelin metabolism pathway genesSemantic proximity Read ↗

SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Acid Sphingomyelinase DeficiencySemantic proximity Read ↗

The Human Acid Ceramidase Gene (ASAH): Structure, Chromosomal Location, Mutation Analysis, and ExpressionSemantic proximity Read ↗

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAsSemantic proximity Read ↗

Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive.Semantic proximity Read ↗

<i>SMPD4</i> mediated sphingolipid metabolism regulates brain and primary cilia developmentSemantic proximity Read ↗

The neutral sphingomyelinase family: Identifying biochemical connectionsSemantic proximity Read ↗

Genomic sequence of human glyoxalase-I: analysis of promoter activity and its regulationSemantic proximity Read ↗

A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region.Semantic proximity Read ↗

A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree.Semantic proximity Read ↗

Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24Semantic proximity Read ↗

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