A 3.2 kb segment spanning from the start of exon 11 into exon 16. This region includes the zinc binding enzymatically active site was reolaced with a neomycin resistance gene. Northern blot analysis confirmed the absence of mRNA and Western blot analysis demonstrated the absence of protein on RBC membranes. (J:212529)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count