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Mutation of PAX2 in two siblings with renal-coloboma syndrome

机译：两个兄弟姐妹中paX2的突变与肾脏 - coloboma综合征

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Phaikasame Sanyanusin; Leslie A. Mcnoe; Michael J. Sullivan; R. Grey Weaver; Michael R. Eccles;
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年度 1995
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1. The mouse Pax2~1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney [J] . Jack Favor, Rodica Sandulache, Angelika Neuhauser-Klaus Proceedings of the National Academy of Sciences of the United States of America . 1996,第24期

机译：小鼠Pax2〜1Neu突变与患有肾小球瘤综合征的家庭中的人类PAX2突变相同，并导致脑，耳，眼和肾的发育缺陷
2. A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation. [J] . Miyazawa T, Nakano M, Takemura Clinical nephrology . 2009,第6期

机译：一例伴有智力发育迟缓的肾小球瘤综合征表现出新的PAX2基因突变。
3. Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). [J] . Devriendt K, Matthijs G, Van-Damme B, Human Genetics . 1998,第2期

机译：两个不相关的肾小球瘤综合征家族的PAX2基因的错义突变和六核苷酸重复（MIM 120330）。
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. Identification of a mutation in COL4A5 causative for X-linked Alport syndrome in the domestic dog and analysis of gene expression in the kidneys of affected and nonaffected siblings. [D] . Cox, Melissa Luanne. 2003

机译：鉴定引起家犬X连锁Alport综合征的COL4A5突变，并分析患病和未患病兄弟姐妹肾脏中的基因表达。
6. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. [O] . L A Schimmenti, H E Cunliffe, L A McNoe, 1997

机译：表型极端变异且PAX2突变相同的患者中进一步描述肾小球瘤综合征。
7. Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human [O] . Alur, Ramakrishna P., Vijayasarathy, Camasamudram, Brown, Jacob D., 2010

机译：PAX2 / Pax2中导致乳头状肾综合征的错义突变导致小鼠和人类的亚型等位基因

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