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Keywords: Compound heterozygosity
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Journal Articles

Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln

Subject Area:
Hematology , Oncology
Antonio Girolami, Mariano Paoletti, Silvia Ferrari, Diana Garcia
Journal: Acta Haematologica
Acta Haematol (2021) 144 (1): 100–104.
https://doi.org/10.1159/000507071
Published Online: 12 May 2020
... (Table 1 ). Genetic sequencing studies revealed that the patient was compound heterozygous for Thr384Met and Arg413Gln in exon 8 (Fig.  2 ). The parents were not consanguineous. The mother showed an identical laboratory pattern and an identical compound heterozygosity for Thr384Met and Arg413Gln as her...
View article titled, Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same <span class="search-highlight">Compound</span> <span class="search-highlight">Heterozygosity</span> for Thr384Met and Arg413Gln
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