出处
《中国优生与遗传杂志》
2005年第7期7-8,共2页
Chinese Journal of Birth Health & Heredity
基金
广东省自然科学基金课题(NO.04009328)
广州市科技局应用基础研究计划资助课题(NO.2004J1-C0112)
参考文献13
-
1Huizing M, Anikster Y, Gahl WA, et al. Hermansky- Pudlak syndrome and related disorders of organelle formation[J ]. Traffic,2000, 1: 823 - 35.
-
2Huizing M, Boissy RE, Gahl WA, etal. Hermansky- pudlak syndrome: vesicle formation from yeast to man[J]. Pigment Cell Res,2002, 15: 405- 19.
-
3Boissy RE, Zhao Y, Gahl WA. Altered protein localzation in melanocytes from Hermansky- Pudlak syndrome: support for the role of the HPS gene product in intracelluar trafficking [ J ]. Lab Invest, 1998, 78:1037 - 48.
-
4Huizing M, Scher CD, Strovel E, et al. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex- 3 and severe Hermansky- Pudlak syndrome type 2[J].Pediatr Res, 2002, 51:150 - 8.
-
5Dell'Angelica EC, Shotelersuk V, Aguilar RC, et al. Altered trafficking of lysosomal proteins in Hermansky - Pudlak syndrome due to mutations in the beta 3A subunit of the AP - 3 adaptor[J ]. Mol Cell, 1999, 3:11-21.
-
6Anikster Y, Huizing M, White J, et al. Mutation of a new gene causes a unique form of Hermansky- Pudlak syndrome in a genetic isolate of central Puerto Rico[J]. Nat Genet, 2001, 28:376- 80.
-
7Huizing M, Anikster Y, Fitzpatrick DL, et al. Hermansky - Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage - pool deficiency[J]. AmJ Hum Genet, 2001, 69: 1022-32.
-
8Anderson PD, Huizing M, Claassen DA, et al. Hermansky - Pudlak syndrome type 4 (HPS- 4): clinical and molecular characteristics[J]. Hum Genet, 2003, 113: 10-7.
-
9Suzuki T, Li W, Zhang Q, et al. Hermansky- Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene[J]. Nat Genet, 2002, 30:321-4.
-
10Chiang PW, Oiso N, Garutam R, et al. The Hermansky - Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC- 3 and BLOC-4, involved in the biogenesis of lysosome-related organelles[J] .J Biol Chem, 2003, 278(22):20332 - 7.
同被引文献38
-
1李洪义,吴维青,郑辉.白化病相关综合征的遗传与分子发病机制[J].国外医学（皮肤性病学分册）,2004,30(4):229-231. 被引量：2
-
2王秀英,易著文.Chediak-Higashi综合征一例[J].中国全科医学,2004,7(18):1363-1364. 被引量：4
-
3龚瑶琴,邵常顺,郑红,陈丙玺,郭亦寿.白化病的遗传流行病学研究[J].Acta Genetica Sinica,1994,21(3):169-172. 被引量：13
-
4段红蕾,郑辉,李洪义.眼皮肤白化病Ⅱ型相关的P基因突变与DNA多态性[J].遗传,2005,27(6):984-988. 被引量：7
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5李洪义,魏海云,吴维青,郑辉.眼皮肤白化病的临床表现与危害[J].中国全科医学,2006,9(14):1211-1212. 被引量：11
-
6Markovic N. Chediak - Higashi - like granules in acute promyeloeytic leukemia[ J J. Blood, 1998,92 ( 9 ) :3475 - 3476.
-
7Golovleva I, et al. Co- existence of Pseudo- Chediak- Higashi anomaly and double minutes containing C - MYC oncogene in three patients with AML - M2 [ JJ. Leukemia,2002,16 ( 1 ) : 152 - 154.
-
8Certain S, Barrat F, Pastural E, et al. Protein struction on test of LYST reveals heterogenous mutations in patients with Chediak - Higashi syndrome[ J]. Blood ,2000,95 ( 3 ) :979 - 983.
-
9Eapen M, DeLaat CA, Baker KS, et al. Hematopoietic cell transplantation for Chediak - Higashi syndrome[ J]. Bone Marrow Transplantation,2007,39(7 ) :411 -415.
-
10Demirkiran O, Utku T, Urkmez SL, et al. Chediak- Higashi syndrome in the intensive care unit[ J]. Pediatric Anesthesia,2004,14 (8) :685 -688.
引证文献4
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1李洪义,段红蕾,郑辉.一种新型眼皮肤白化病——OCA4[J].遗传,2006,28(9):1149-1152. 被引量：4
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2李洪义,屈艳霞,郑辉.Hermansky-Pudlak综合征的临床表现、诊断与治疗[J].中国全科医学,2007,10(2):165-167. 被引量：2
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3郝良纯,王秀丽,王弘,边爽,王欢,徐刚,赵继顺.小儿Chediak-Higashi综合征临床报告及随访[J].中国优生与遗传杂志,2010,18(9):120-121. 被引量：2
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4孙则红,郎卫华,王志学.眼-皮肤白化病、眼白化病、白化病相关综合征三例[J].中华眼底病杂志,2011,27(5):491-492.
二级引证文献8
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1闻人庆,郑辉,李洪义.眼皮肤白化病Ⅲ型研究进展[J].国际遗传学杂志,2007,30(5):355-358. 被引量：1
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2郑辉,闻人庆,谷学英,刘志强,李洪义.眼皮肤白化病患者的TYR基因突变类型初步研究[J].暨南大学学报（自然科学与医学版）,2008,29(6):543-546. 被引量：2
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3李福德,石华,张海涛.嗜酸粒细胞特殊染色诊断Chediak-Higashi综合征价值[J].中华实用诊断与治疗杂志,2012,26(2):159-161.
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4徐益恒,李劲榆,瞿晓媛.Chediak-Higashi综合征1例报告并文献复习[J].国际检验医学杂志,2012,33(4):509-510.
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5刘润佳.眼皮肤白化病的研究进展与治疗[J].医学信息,2012,25(12):447-448.
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6陈淑靖,朱蕾,戴晓敏,计海婴,姜林娣,顾宇彤.吡非尼酮治疗结缔组织病相关性间质性肺病4例并文献复习[J].上海医学,2017,40(9):567-570. 被引量：2
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7张颖珍,靳彩虹,郭敏,李多福,柴连明,武洋,李东禄.一个眼皮肤白化病家系的TYR基因变异研究[J].中华医学遗传学杂志,2021,38(9):833-837.
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8师琴,贺湘玲,陈可可,朱呈光.HPS1基因杂合突变的伴严重消化道出血的白化病1例[J].中国小儿血液与肿瘤杂志,2021,26(4):247-249.
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1李洪义,吴维青,郑辉.白化病相关综合征的遗传与分子发病机制[J].国外医学（皮肤性病学分册）,2004,30(4):229-231. 被引量：2
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2方红.白发症与系统疾病[J].中国医学文摘（皮肤科学）,2016,33(4):491-495. 被引量：7
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3唐琼秀,肖梅,陈湘漪,吴雪春,李敏,周训玺.胎儿眼皮肤白化病一例报告并文献复习[J].中华妇产科杂志,2013,48(8):627-628. 被引量：2
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4李慧珠.掌跖皮肤角化病与相关综合征[J].国外医学（皮肤性病学分册）,1996,22(4):228-230. 被引量：5
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5李维维,王策,李淑明,郝雪云.带状疱疹后遗神经痛的产生机制[J].生物技术世界,2015,12(3):84-84. 被引量：7
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6肖健江,罗晓刚,刘斌,叶纹.眼皮肤白化病的临床表现及研究进展[J].中国眼耳鼻喉科杂志,2008,8(2):122-123. 被引量：6
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7张江安,于建斌.以鱼鳞病样皮损为线索的鱼鳞病相关综合征[J].中国皮肤性病学杂志,2008,22(12):762-764. 被引量：1
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8Ito S.,Suzuki T.,Inagaki K.,任建文.Hermansky-Pudlak综合征1型(HPS1)在日本白化病患者中频发和HPS1突变蛋白的功能分析[J].世界核心医学期刊文摘（皮肤病学分册）,2006,2(8):13-13.
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9谷学英,刘玲,刘志强,李洪义.Chediak-Higashi综合征诊断与治疗新进展[J].临床儿科杂志,2009,27(2):193-195. 被引量：7
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10项红兵,田玉科.突触改变在病理性神经痛中的作用[J].疼痛,2004,12(3):68-70. 被引量：9
