Table 1 of
Liu, Mol Vis 2000;
6:261-264.Table 1 of
Liu, Mol Vis 2000;
6:261-264.
Table 1. Mutations detected in the CHST6 coding region from six Icelandic families with MCD I
Family Patients Disease DNA Protein Status of
number* in family haplotype* change change CHST6 change
------- --------- ---------- ---------- ------- ------------
1 4 1 C1075T A128V Homozygous
2 4 1 C1075T A128V Homozygous
3 1 1 C1075T A128V Homozygous
5 2 1 C1075T A128V Homozygous
7 1 1 C1075T A128V Heterozygous
4 G1189C R166P Heterozygous
9 2 1 C1075T A128V Heterozygous
2 707-708ins Major Heterozygous
2 2 707-708ins Major Homozygous
|
*Family numbers and haplotypes were named the same as in previous publications [9,10]. Haplotype 1 in this table includes the common founder haplotype 1 and its traces 1a, 1b, 1d, 1f, 1g, 1h, 1i, and 1j.