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02%). Using a systematic approach comprised of three steps, 237 pathogenic variants in 478 out of 485 patient samples (98.6%) were detected, including the identification of a heterogeneous mutation spectrum of 91 novel mutations. In addition, prenatal diagnosis of HA in pregnant carriers allowed for accurate determination of the foetal F8 gene state. Using a systematic approach comprised of three steps, 237 pathogenic variants in 478 out of 485 patient samples (98.6%) were detected, including the identification of a heterogeneous mutati
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