Objective To investigate gene mutations of a consanguineous family with two oculocutaneous albinism(OCA)patients.
目的在DNA水平上对1个有2例患者的姨表兄妹近亲婚配家系中的眼皮肤白化病患者进行分型诊断。
Part 1 Gene diagnosis of oculocutaneous albinismObjective To identify the mutations of tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism.
第一部分眼皮肤白化病的基因诊断目的对三例眼皮肤白化病(Oculocutaneous albinism，OCA)患者进行基因诊断，研究眼皮肤白化病Ⅰ、Ⅱ型相关基因，即酪氨酸酶基因(tyrosinase，TYR)和P基因的基因突变。
In this study, we will analyze the molecular basis on oculocutaneous albinism type 1 and Prader-Willi syndrome.
本研究分别对眼皮肤白化病Ⅰ型(oculocutaneous albinism type 1，OCA1)和Prader-Willi综合征(Prader-Willi syndrome，PWS)这两种遗传性疾病的分子基础进行了研究和探讨。
In this study,we will analyze the molecular basis and mutations\' nosogenesis on oculocutaneous albinism type 1.
本研究对眼皮肤白化病Ⅰ型(oculocutaneous albinismtype 1,OCA1)的分子基础及其突变致病性进行研究和探讨。
Progress of the Genetics of Oculocutaneous Albinism;
眼皮肤白化病1型的遗传学机制的研究进展
Clinical Manifestation and Hazard of Oculocutaneous Albinism;
眼皮肤白化病的临床表现与危害
Molecular pathophysiological basis of the ocular albinism type 1
眼白化病1型的分子病理生理基础
a person with albinism: white hair and pink eyes and milky skin.
有白化病的人；白色的头发、粉红色的眼睛和乳白色的皮肤。
SNPs in the gene MATP of oculocutaneous albinism type 4 and skin color
眼皮肤白化病Ⅳ型基因MATP的SNPs与皮肤颜色
"Albinism: ABsence of the pigment melanin in the eyes, skin, hair, scales, or feathers."
白化病: 指双眼、皮肤、毛发、鳞片、羽毛等缺乏黑色素的情况。
" Albinism： Absence of the pigment melanin in the eyes, skin, hair, scales, or feathers."
白化病:指双眼、皮肤、毛发、鳞片、羽毛等缺乏黑色素的情况。
The Molecular Basis of Oculocutaneous Albinism Type 1 and Prader-Willi Syndrome;
眼皮肤白化病Ⅰ型和Prader-Willi综合征分子基础的初步研究
Expression of Transforming Growth Factor-β_1 (TGF-β_1) in Lens Epithelial Cells(LECs) of Type Ⅱ Diabetes Patients with Cataract;
转化生长因子-β_1在Ⅱ型糖尿病伴白内障眼晶状体上皮细胞的表达
The Changes of Strategy in Diabetes--from Focus on Glycosylated Hemoglobin to Avoiding Cardiovascular Events
糖尿病防治的策略转变——从关注糖化血红蛋白到着眼心血管事件
Significance of Gene Diagnosis and Prenatal Diagnosis for Oculocutaneous Albimism TypeⅠ(OCA1)
眼皮肤白化病Ⅰ型的基因诊断及产前诊断的意义
Albino: person or animal born with no colouring pigment in the skin and hair(which are white)and the eyes(which are pink)
患白化病的人或动物（先天色素缺乏患者,皮肤毛发呈白色,眼呈粉红色）
Chlamydial Heat Shock Protein 60 and Immunopathogensis
沙眼衣原体热休克蛋白60与免疫致病
Study on the Expression of Opticin in the Eye of Diabetic Mice
糖尿病小鼠眼Opticin蛋白表达的研究
Changes of serum concentrations of interleukin-6 in the activity of Graves ophthalmopathy
Graves眼病中血清白介素6的改变
The condition of being an albino.
白化病现象患白化病的人或白化体状态
Mechanism of the Action between the Severe Acute Respiratory Syndrome-Coronavirus S Protein and the Receptor--Angiotensin-converting Enzyme 2 in Eyes;
严重急性呼吸综合征冠状病毒S蛋白与眼部受体—血管紧张素转化酶2作用机制的研究
The advantage of OCT in the inspection before high myopia complicated cataract phacoemulsification surgery
高度近视并发白内障行超声乳化吸除术前光学相干断层扫描检查眼底病变的优势
Snow Melting in the Eyes of Buddha,Analysis for the Taste and Culture of white in Tibet
白雪在佛的眼中融化——西藏白色审美文化初探
The Expression and Signification of Leptin Gene and Protein in Orbital Adipose Tissues from Thyroid Associated Ophthalmopathy;
瘦素及其蛋白在甲状腺相关眼病眼眶脂肪组织中的表达及意义
