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.


Liu, Mol Vis 2000; 6:261-264 <http://www.molvis.org/molvis/v6/a35/>
©2000 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535