The promoter drives epithelial cell-specific expresison of a human cDNA with nucleotide susbtitutions that lead to amino acid substitutions of alanine and glycine for proline at positions 402 and 564. No line information given. (J:141905)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count