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Updated: Jul 19, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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先天性纤维原体疾病:通过新的遗传诊断工具加强基因型-表型相关性

Radha Ramanan1,2,3, James D McFadyen1,2,4, Andrew C Perkins1,2,3

  • 1Department of Haematology, Alfred Hospital, Melbourne, Victoria, Australia.

British journal of haematology
|August 16, 2023
PubMed
概括

先天性纤维原体疾病 (CFD) 呈现出多种不同的症状和遗传原因,基因型-表型联系仍不清楚. 为了准确的诊断和有针对性的患者管理,需要进一步的研究.

关键词:
这种疾病是afibrinogenemia.遗传性纤维素原体疾病造成纤维蛋白质变异症.基因型-表型相关性相关性这种情况是hypodysfibrinogenemia.过低纤维素生成性血症的发生.这是下一代测序.

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