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- Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. 什麼是'眼皮膚白化病類型4-減少皮膚色素沉著的頭髮和眼睛'?
- Oculocutaneous albinism also causes severe intolerance to sunlight and heightens susceptibility to skin cancer in exposed areas. 白化病眼還造成嚴重容忍日光敏感性皮膚癌,並加劇空曠地方。
- In tyrosinase-negative oculocutaneous albinism (most common), melanosomes don't contain melanin because they lack tyrosinase, the enzyme that stimulates melanin production. 在酪氨酸酶陰性眼白化(最常見)、黑色素細胞不會含有黑色素因為缺乏酪氨酸,激發酶生產黑色素。
- In tyrosinase-positive oculocutaneous albinism, melanosomes contain tyrosine, a tyrosinase substrate, but a defect in the tyrosine transport system impairs melanin production. 在酪氨酸酶陽性眼皮膚白化,含有黑色素細胞酪氨酸,酪氨酸基板,但缺陷妨礙交通系統的酪氨酸黑色素生產。
- Oculocutaneous albinism(OCA) is a group of autosomal recessive disorders of melanin synthesis,which is characterized by congenital hypopigmentation of skin,hair and eyes. 眼皮膚白化病是由於黑色素合成相關基因突變導致眼、皮膚、毛髮黑色素沉著減少或缺乏引起的一類常染色體隱形遺傳疾病的總稱。
- Oculocutaneous albinism results from an autosomal recessive trait; ocular albinism results from an X-linked recessive trait that causes hypopigmentation only in the iris and the ocular fundus. 結果從眼白化病常染色體隱性性狀;眼部白化結果從X連鎖隱性性狀,只有在虹膜色素缺失原因及眼底。
- Oculocutaneous albinism in eye skin is a series of hereditary disease related to melanin biosynthesis,which is mainly short of melanin of eye,skin,hair and brings various hazard to patients. 眼皮膚白化病是一組與黑色素生物合成有關的遺傳性疾病,表現為眼、皮膚、毛髮黑色素缺乏等。
- tyrosinase-negative oculocutaneous albimism 酪氨酸酶陰性眼皮膚白化病
- tyrosinase-negative oculocutaneous albinism 酪氨酸酶陰性的眼皮膚白化病
- tyrosinase-positive oculocutaneous albimism 酪氨酸酶陽性眼皮膚白化病
- tyrosinase-positive oculocutaneous albinism 酪氨酸酶陽性的眼皮膚白化病
- Punctate oculocutaneous albinoidism 點狀眼皮膚不完全白化病
- Autosomal dominant oculocutaneous albinism 常染色體顯性遺傳眼皮膚白化病
- Yellow mutant oculocutaneous albinism 黃色突變型眼皮膚白化病
- Clinical Manifestation and Hazard of Oculocutaneous Albinism 眼皮膚白化病的臨床表現與危害
- Keywords oculocutaneous albinism;MATP gene;gene mutation;DNA polymorphism; 眼皮膚白化病;MATP基因;基因突變;DNA多態性;
- Keywords oculocutaneous albinism;P gene;gene mutation;DNA polymorphism; 眼皮膚白化病;P基因;基因突變;DNA多態性;
- black(locks), (oculocutaneous)albinism, deafness(of sensorineural type)syndrome 黑(發)、(眼皮膚)白化病、感覺神經性耳聾綜合征
- Keywords oculocutaneous albinism;P gene;gene diagnosis;gene mutation; 眼皮膚白化病;P基因;基因診斷;基因突變;
- Albinism is an inherited disorder that results from a defect in melanin metabolism of the skin and eyes (oculocutaneous albinism) or just the eyes (ocular albinism) 白化症是一種遺傳性缺陷造成的黑色素代謝的眼睛和皮膚(白化病眼眼),或隻眼睛(白化病)。
