https://cftrinh-172inhibitor.c....om/overdue-eliminati
Molecular analysis identified four Caucasian families carrying novel variations in TECRL. One client was homozygous for Gln139* causing a premature end codon and loss-of-function of this TECRL necessary protein. Another patient was homozygous for Pro290His, probably leading to an altered folding of this 3-oxo-5-alpha steroid 4-dehydrogenase domain associated with the TECRL protein. The LOF-variant Ser309* and the missense-variant Val298Ala being shown to be compound heterozygous in a
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