Fig. 1.

Identification of novel AP1S1 missense mutations. Pedigrees of patients 1 and 2 (a) and patient 3 (b). Detection of AP1S1 variants (c) c.269T>C; representative sequence traces are shown from patient 1 (patient), her mother (carrier) and from a control and d c.346G>A; representative sequence traces are shown from patient 3 (patient), her mother (carrier) and from a control