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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Detalles Bibliográficos
Autores principales: Naz, Arshi, Biswas, Arijit, Khan, Tehmina Nafees, Goodeve, Anne, Ahmed, Nisar, Saqlain, Nazish, Ahmed, Shariq, Ujjan, Ikram Din, Shamsi, Tahir S, Oldenburg, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5594472/
https://www.ncbi.nlm.nih.gov/pubmed/28912669
http://dx.doi.org/10.1186/s12959-017-0143-3

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