[3].Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (...
有关Hermansky–Pudlak综合征 Hermansky–Pudlak综合征(Hermansky–Pudlak syndrome, HPS)是一种综合症型白化病,主要表现为色素减退、出血倾向以及由溶酶体相关细胞器功能缺陷引起的其他临床表现,例如肺纤维化、结肠炎、免疫相关疾病、神经症状等。目前人群中已鉴定出10种HPS亚型及其致病基因(HPS1~10)。 色素减退与黑素小...
Genes Hermansky-Pudlak syndrome (HPS) can be caused by mutation in one of several genes: HPS1, HPS3, HPS4, HPS5, and HPS6. HPS2, which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene. HPS7 is caused by mutation in the Gene map locus 22q11.2-...
而遗传性疾病 Hermansky-Pudlak 综合征(Hermansky-Pudlak syndrome,HPS),更是给肺纤维化的研究带来了新的挑战和机遇。HPS 是一种非常罕见的常染色体隐性遗传病,大约每百万人中才会出现一例。患有这种病的人,不仅会有眼皮肤白化病和血小板功能障碍,部分患者还会早早地被进行性纤维化 ILD 找上门,这也是导致他们死亡的...
还有其他与HPS相关的术语，如海得拉巴公立学校（Hyderabad Public School）、汉坦病毒肺综合征（Hantavirus Pulmonary Syndrome）、保健物理学会（Health Physics Society）、荷兰公立学校（Holland Public Schools）、白化病型赫日曼斯基- Pudlak综合征、高性能交换机（High Performance Switch, IBM）、模拟病人系统（...
网络释义 1. 氏综合征 检索:海普二氏综合征(Hermansky-Pudlak-syndrome)检索词是:海普二氏综合征或者Hermansky-Pudlak-syndrome 截词 …www.kjebm.com|基于1 个网页 例句 释义: 全部,氏综合征 更多例句筛选 1. Clinical Manifestation, Diagnosis and Treatment of Hermansky-Pudlak Syndrome 综合征的临床表现、诊断...
Hermansky-Pudlak综合征(Hermansky-Pudlak Syndrome, HPS3-Related)是一种罕见的遗传性疾病,主要影响皮肤、眼睛和血小板功能。以下是HPS3相关患者进行遗传性测试的理由: 1. 确诊疾病:遗传性测试可以确认患者是否携带HPS3基因突变,从而确诊HPS3相关综合征。这对于患者和家庭来说是非常重要的,因为它可以提供对疾病的解...
1. Huizing M, et al. Hermansky-Pudlak syndrome type 1: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006;19(1):19-42. 2. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle dysfunction. Pigment Cell Res. 2006;19(1):19-42....
Hermansky-Pudlak syndromeis anautosomal recessive disordercharacterized byoculocutaneous albinismandbleeding, found predominantly in inhabitants of Puerto Rico and southern Holland.181-183The biochemical defect is unknown, although putatively responsible genes have been identified and several mutations have b...