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- Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. 什么是'眼皮膚白化病類(lèi)型4-減少皮膚色素沉著(zhù)的頭發(fā)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,并加劇空曠地方。
- 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(jiàn))、黑色素細胞不會(huì )含有黑色素因為缺乏酪氨酸,激發(fā)酶生產(chǎn)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(yáng)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(chǎn)。
- Oculocutaneous albinism(OCA) is a group of autosomal recessive disorders of melanin synthesis,which is characterized by congenital hypopigmentation of skin,hair and eyes. 眼皮膚白化病是由于黑色素合成相關(guān)基因突變導致眼、皮膚、毛發(fā)黑色素沉著(zhù)減少或缺乏引起的一類(lèi)常染色體隱形遺傳疾病的總稱(chēng)。
- 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(guān)的遺傳性疾病,表現為眼、皮膚、毛發(fā)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(yáng)性眼皮膚白化病
- tyrosinase-positive oculocutaneous albinism 酪氨酸酶陽(yáng)性的眼皮膚白化病
- Punctate oculocutaneous albinoidism 點(diǎn)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(tài)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(tài)性;
- black(locks), (oculocutaneous)albinism, deafness(of sensorineural type)syndrome 黑(發(fā))、(眼皮膚)白化病、感覺(jué)神經(jīng)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) 白化癥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),或只眼睛(白化病)。
