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Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature

Somatic mutations in CALR gene have been reported in 60%–88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for JAK2 and MPL mutations. Most of the CALR mutations analyzed to date are heterozygous mutations in exon 9 of the gene. Homozygosity in CALR...

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Detalles Bibliográficos
Autores principales: Rizvi, Qurratulain, Zaidi, Uzma, Shahid, Saba, Ahmed, Shariq, Shamsi, Tahir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360597/
https://www.ncbi.nlm.nih.gov/pubmed/30805227
http://dx.doi.org/10.1155/2019/1430170