Fig. 2

Automated DNA sequence electropherograms of TRIC-gene mutations. Sequence analysis of exon 4 in normal (a), obligate carrier (b), and affected (c) individuals of families 4,129 and 4,252. The recurrent splice-site mutation (IVS4 + 2T > C) was identified in families 4,129 and 4,252. Sequence analysis of exon 4 in normal (d), obligate carrier (e), and affected (f) individuals of family 4,348. The splice-site mutation (IVS4 + 1G > A) was found in family 4,348