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iciency and Björnstad syndrome in China and identified 1 novel mutation (C.1061_1062insCTA and P. G354delinsGY) in the BCS1L gene. This finding expands the BCS1L gene mutation profile and will be beneficial for genetic diagnosis. We reported the first patient with CIII deficiency and Björnstad syndrome in China and identified 1 novel mutation (C.1061_1062insCTA and P. G354delinsGY) in the BCS1L gene. This finding expands the BCS1L gene mutation profile and will be beneficial for genetic diagnosis. Pulmonary hemorrhage is a rare but fatal
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