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Updated: Jul 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

ニーマン・ピックC病の第2の遺伝子としてHE1の識別

S Naureckiene1, D E Sleat, H Lackland

  • 1Center for Advanced Biotechnology and Medicine, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, NJ, 08854, USA.

Science (New York, N.Y.)
|December 23, 2000
PubMed
まとめ

ニーマン・ピック型C2型疾患 (NP-C2) は,コレステロールをリソソームから輸送するのに不可欠なHE1タンパク質の欠乏から生じる. 患者細胞のHE1タンパク質レベルを回復させることで,コレステロールの調節が改善されました.

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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