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cone dystrophy/phosphatase
Povezava se shrani v odložišče
3 rezultatov
Progressive cone dystrophy associated with low alpha-L-fucosidase activity in serum and leukocytes.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
The enzyme activities of acid phosphatase, beta-glucuronidase, N-acetyl-beta-D-glucosaminidase, and alpha-D-mannosidase were not significantly different in patients with myopia, retinal detachment, hereditary macular dystrophy, and unusual progressive cone dystrophy. alpha-L-Fucosidase activity in
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B″gamma
Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Examination of the role of Ca(2+)-binding proteins (CaBPs) in mammalian retinal neurons has yielded new insights into the function of these proteins in normal and pathological states. In the last 8 years, studies on guanylate cyclase (GC) regulation by three GC-activating proteins (GCAP1-3) led to
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