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First report of inherited protein S deficiency caused by paternal mosaicism.

作者信息

Nagaya Satomi, Maruyama Keiko, Watanabe Atsushi, Meguro-Horike Makiko, Imai Yuta, Hiroshima Yuki, Horike Shin-Ichi, Kokame Koichi, Morishita Eriko

机构信息

Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, Kanazawa, Ishikawa.

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka.

出版信息

Haematologica. 2022 Jan 1;107(1):330-333. doi: 10.3324/haematol.2021.278527.

DOI:10.3324/haematol.2021.278527
PMID:34647440
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8719071/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a17/8719071/7234b8feb8ca/107330.fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a17/8719071/99d1f8f720a8/107330.fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a17/8719071/3b41f90d8871/107330.fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a17/8719071/7234b8feb8ca/107330.fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a17/8719071/99d1f8f720a8/107330.fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a17/8719071/3b41f90d8871/107330.fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a17/8719071/7234b8feb8ca/107330.fig3.jpg

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High sensitivity sanger sequencing detection of BRAF mutations in metastatic melanoma FFPE tissue specimens.应用高灵敏度桑格测序法检测转移性黑色素瘤 FFPE 组织标本中的 BRAF 突变。
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Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.
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Eur J Hum Genet. 2021 May;29(5):771-779. doi: 10.1038/s41431-020-00797-3. Epub 2021 Jan 7.
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Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.遗传性血友病嵌合体:实用评估以帮助判断疾病传播风险的综述
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