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- oculocutaneous tyrosinosis 眼皮肤酪氨酸病
- Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. 什么是'眼皮肤白化病类型4-减少皮肤色素沉着的头发和眼睛'?
- Oculocutaneous albinism also causes severe intolerance to sunlight and heightens susceptibility to skin cancer in exposed areas. 白化病眼还造成严重容忍日光敏感性皮肤癌,并加剧空旷地方。
- In tyrosinase-negative oculocutaneous albinism (most common), melanosomes don't contain melanin because they lack tyrosinase, the enzyme that stimulates melanin production. 在酪氨酸酶阴性眼白化(最常见)、黑色素细胞不会含有黑色素因为缺乏酪氨酸,激发酶生产黑色素。
- In tyrosinase-positive oculocutaneous albinism, melanosomes contain tyrosine, a tyrosinase substrate, but a defect in the tyrosine transport system impairs melanin production. 在酪氨酸酶阳性眼皮肤白化,含有黑色素细胞酪氨酸,酪氨酸基板,但缺陷妨碍交通系统的酪氨酸黑色素生产。
- Oculocutaneous albinism(OCA) is a group of autosomal recessive disorders of melanin synthesis,which is characterized by congenital hypopigmentation of skin,hair and eyes. 眼皮肤白化病是由于黑色素合成相关基因突变导致眼、皮肤、毛发黑色素沉着减少或缺乏引起的一类常染色体隐形遗传疾病的总称。
- 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. 结果从眼白化病常染色体隐性性状;眼部白化结果从X连锁隐性性状,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. 眼皮肤白化病是一组与黑色素生物合成有关的遗传性疾病,表现为眼、皮肤、毛发黑色素缺乏等。
- tyrosinase-negative oculocutaneous albimism 酪氨酸酶阴性眼皮肤白化病
- tyrosinase-negative oculocutaneous albinism 酪氨酸酶阴性的眼皮肤白化病
- tyrosinase-positive oculocutaneous albimism 酪氨酸酶阳性眼皮肤白化病
- tyrosinase-positive oculocutaneous albinism 酪氨酸酶阳性的眼皮肤白化病
- Punctate oculocutaneous albinoidism 点状眼皮肤不完全白化病
- Autosomal dominant oculocutaneous albinism 常染色体显性遗传眼皮肤白化病
- Yellow mutant oculocutaneous albinism 黄色突变型眼皮肤白化病
- Clinical Manifestation and Hazard of Oculocutaneous Albinism 眼皮肤白化病的临床表现与危害
- Keywords oculocutaneous albinism;MATP gene;gene mutation;DNA polymorphism; 眼皮肤白化病;MATP基因;基因突变;DNA多态性;
- Keywords oculocutaneous albinism;P gene;gene mutation;DNA polymorphism; 眼皮肤白化病;P基因;基因突变;DNA多态性;
- black(locks), (oculocutaneous)albinism, deafness(of sensorineural type)syndrome 黑(发)、(眼皮肤)白化病、感觉神经性耳聋综合征
- Keywords oculocutaneous albinism;P gene;gene diagnosis;gene mutation; 眼皮肤白化病;P基因;基因诊断;基因突变;
