Table 2. Mutations in seven families and the significant LOD score in four families.

Family	Location	Mutation	Protein	Type of mutation	Zmax at DXS1047
A	exon 9	c. 812G>T	p.C271F	missense	8.55
B	exon 8	689–690delAG	p.S232Ffs2	deletion	3.61
C					2.42
D	exon 2	c. 70G>T	p.G24W	missense	1.57
E	exon 9	c. 782G>A	p.R260Q	missense
F	exon 9	c. 782G>A	p.R260Q	missense
G	exon 10	c. 910C>T	p.R303X	nonsense