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Updated: Jul 5, 2025

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遗传分析,表型谱和功能性研究罕见的骨质发生不完美由CRTAP变种引起的

Bingna Zhou1, Peng Gao2, Jing Hu1

  • 1Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

The Journal of clinical endocrinology and metabolism
|January 12, 2024
PubMed
概括

新的CRTAP突变会导致严重的Osteogenesis Imperfecta VII型. 这些遗传缺陷降低了CRTAP蛋白,损害了患者的原氧化和骨形成.

关键词:
新的CRTAP变种可能会出现.骨质发生不完美症 (osteogenesis imperfecta) 是一个病原性机制是一种病原性机制.

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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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