Table 1.

DSHP mutational analysis

Patient	Exon	Codon	Nucleotide change (nt position)	Effect on protein
D	2	55	C-to-T (164)	Stop at codon 55
T	2	58	C-to-T (173)	Stop at codon 58
8001	2	61	Deletion 23 bp (183)	Frameshift, stop at codon 75
8005	2	58	C-to-T (173)	Stop at codon 58