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A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family.

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Title: A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family.
Authors: Patil K; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East., Shah A; Holy Family Hospital, Bandra, Mumbai, Maharashtra, India., Saini G; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East., Tawde S; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East., Kharat S; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East., Jivani F; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East., Kamble A; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East., Shetty S; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.
Source: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2024 Dec 01; Vol. 35 (8), pp. 379-381. Date of Electronic Publication: 2024 Nov 02.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Lippincott Williams And Wilkins Country of Publication: England NLM ID: 9102551 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5733 (Electronic) Linking ISSN: 09575235 NLM ISO Abbreviation: Blood Coagul Fibrinolysis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family.
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  Data: <searchLink fieldCode="AU" term="%22Patil+K%22">Patil K</searchLink>; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.<br /><searchLink fieldCode="AU" term="%22Shah+A%22">Shah A</searchLink>; Holy Family Hospital, Bandra, Mumbai, Maharashtra, India.<br /><searchLink fieldCode="AU" term="%22Saini+G%22">Saini G</searchLink>; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.<br /><searchLink fieldCode="AU" term="%22Tawde+S%22">Tawde S</searchLink>; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.<br /><searchLink fieldCode="AU" term="%22Kharat+S%22">Kharat S</searchLink>; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.<br /><searchLink fieldCode="AU" term="%22Jivani+F%22">Jivani F</searchLink>; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.<br /><searchLink fieldCode="AU" term="%22Kamble+A%22">Kamble A</searchLink>; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.<br /><searchLink fieldCode="AU" term="%22Shetty+S%22">Shetty S</searchLink>; Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.
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  Data: <searchLink fieldCode="JN" term="%229102551%22">Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis</searchLink> [Blood Coagul Fibrinolysis] 2024 Dec 01; Vol. 35 (8), pp. 379-381. <i>Date of Electronic Publication: </i>2024 Nov 02.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+And+Wilkins%22">Lippincott Williams And Wilkins </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9102551 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1473-5733 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209575235%22">09575235 </searchLink><i>NLM ISO Abbreviation: </i>Blood Coagul Fibrinolysis <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39526669
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        Value: 10.1097/MBC.0000000000001333
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      – Code: eng
        Text: English
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        StartPage: 379
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      – TitleFull: A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family.
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            NameFull: Patil K
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            NameFull: Kamble A
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            – D: 01
              M: 12
              Text: 2024 Dec 01
              Type: published
              Y: 2024
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              Value: 1473-5733
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            – TitleFull: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
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