نتایج جستجو برای: oculocutaneous albinism 1 a
تعداد نتایج: 14033402 فیلتر نتایج به سال:
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin. Each is thought to result from a different mutant allele at the tyrosinase locus, with the mutation producing an enzyme with little or no activity in all involved tissues. In this paper, we report a new type o...
Oculocutaneous albinism (OCA) is a recessively inherited genetic condition prevalent throughout sub-Saharan Africa. We now describe a cluster of tyrosinase positive OCA (OCA2) cases belonging to the Tonga ethnic group living in the Zambezi valley of northern Zimbabwe. The prevalence in this region was 1 in 1000, which is four times higher than that for the country as a whole. The gene frequency...
The Rockefeller University Press $30.00 J. Cell Biol. Vol. 209 No. 4 563–577 www.jcb.org/cgi/doi/10.1083/jcb.201410026 JCB 563 *M.K. Dennis and A.R. Mantegazza contributed equally to this paper. **M.S. Marks and S.R.G. Setty contributed equally to this paper. Correspondence to Michael S. Marks: [email protected] Abbreviations used in this paper: AF488, Alexa Fluor 488; AP-3, adaptor pro...
Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains and is associated with melanosomal membranes. The specific function of the P protein is currently u...
chediak - higashi syndrome (chs) is a rare, primary immunodeficiency disorder with an autosomal recessive (ar) inheritance and characterized by re¬current infection, partial occulocutaneous albinism and an accelerated phase. in this report we describe clinical and laboratory findings from 6 chs pa¬tients. clinical and laboratory information of six patients who were referred to our center during...
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