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Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

BACKGROUND: Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma. Consanguinity in Pakistan and its neighboring countries...

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Dades bibliogràfiques
Publicat a:Thromb J
Autors principals: Naz, Arshi, Biswas, Arijit, Khan, Tehmina Nafees, Goodeve, Anne, Ahmed, Nisar, Saqlain, Nazish, Ahmed, Shariq, Ujjan, Ikram Din, Shamsi, Tahir S, Oldenburg, Johannes
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5594472/
https://ncbi.nlm.nih.gov/pubmed/28912669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12959-017-0143-3
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