QH426 Genetics

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Studies of spider silks indicate that they may outperform virtually all synthetic fibres in terms of strength, elasticity and toughness. To date, most silks studied come from only a select few species and likely underrepresent the immense diversity of the clades. Here, protein a…

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a severe multisystem disorder caused by mutations in VPS33B and VIPAR. A splice site mutation, VPS33B c.1225+5 G>C, was identified in a patient with attenuated ARC phenotype. Modelling of this mutation and misse…