نتایج جستجو برای: x linked recessive
تعداد نتایج: 848601 فیلتر نتایج به سال:
Heterogeneous loss of function mutations at F8 and F9 genes causes X-linked recessive bleeding disorders, hemophilia A (HA) and hemophilia B (HB), respectively. HA is clinically indistinguishable from HB and accounts for more than 80% of hemophilia cases; the former affects 1/5000 and the latter 1/25000 male births worldwide. In Iran, it is estimated that around 4300 HA and 900 HB patients are ...
X-linked ichthyosis (XLI) is an X-linked recessive skin disorder generally restricted to males, which arises from mutations in the steroid sulfatase (STS) gene located on Xp22.3. Crigler-Najjar syndrome (CN-I) is a rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations in the UPD‑glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene on chromosome 2...
I should like to review very briefly the various kinds of genetic damage that might be expected to occur from chemical mutagens, the time delay before such effects might be manifest, and something of the kind of impact that these might be expected to have on human well-being. I hardly need to add that this is an area where we know very little; we know enough to be apprehensive, but not enough t...
Hemophilia A is an X-linked recessive hereditary bleeding illness that manifests as increased after moderate trauma and spontaneous bleeding. It caused by a deficiency of the clotting factor VIII (FVIII). We report video assisted-thoracoscopy in 48-year-old patient with A. shouldn't be barrier to invasive surgery, but there are few conditions must met ensure straightforward intraoperative posto...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید