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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Detalhes bibliográficos
Publicado no:Thromb J
Main Authors: Naz, Arshi, Biswas, Arijit, Khan, Tehmina Nafees, Goodeve, Anne, Ahmed, Nisar, Saqlain, Nazish, Ahmed, Shariq, Ujjan, Ikram Din, Shamsi, Tahir S, Oldenburg, Johannes
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha: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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