Novel ACTN1 variants in cases of thrombocytopenia
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DOI: 10.1002/humu.23840
Abstract: The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1‐related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. We… read more here.
Keywords: actn1 variants; rod domain; thrombocytopenia; variants cases ... See more keywords
Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin
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DOI: 10.3390/ijms23052624
Abstract: BMD is characterized by a marked heterogeneity of gene mutations resulting in many abnormal dystrophin proteins with different expression and residual functions. The smaller dystrophin molecules lacking a portion around exon 48 of the rod… read more here.
Keywords: bmd; lacking portion; rod domain;