Search results
-
S
Newborn testing shows R117H (from father) and S1235R AND R785X (from mother)
This is such and old post, so probably your CF specialist has answered your question, but having a third CFTR mutation just means that the two mutations from mom were on one gene (in cis), the mom does not have CF and is just a complex carrier. Everyone just has two CFTR genes, as long as one...- shica4u
- Post #56
- Forum: Newly Diagnosed
-
S
Newborn testing shows R117H (from father) and S1235R AND R785X (from mother)
This is such and old post, so probably your CF specialist has answered your question, but having a third CFTR mutation just means that the two mutations from mom were on one gene (in cis), the mom does not have CF and is just a complex carrier. Everyone just has two CFTR genes, as long as one...- shica4u
- Post #57
- Forum: Newly Diagnosed
-
S
Newborn testing shows R117H (from father) and S1235R AND R785X (from mother)
This is such and old post, so probably your CF specialist has answered your question, but having a third CFTR mutation just means that the two mutations from mom were on one gene (in cis), the mom does not have CF and is just a complex carrier. <br />Everyone just has two CFTR genes, as long...- shica4u
- Post #58
- Forum: Newly Diagnosed