首页> 外文OA文献 >New Missense Mutation in the Human Ferrochelatase Gene in a Family with Erythropoietic Protoporphyria: Functional Studies and Correlation of Genotype and Phenotype

【2h】

New Missense Mutation in the Human Ferrochelatase Gene in a Family with Erythropoietic Protoporphyria: Functional Studies and Correlation of Genotype and Phenotype

机译：用促红细胞生成原子骨髓的家族中人类铁切酶基因的新畸打突变：功能研究和基因型和表型的相关性

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

著录项
引文网络
相似文献
相关主题

著录项

作者
Urszula B Rüfenacht; Anita Gregor; Laurent Gouya; Sylwia Tarczynska-Nosal; Xiaoye Schneider-Yin; Jean-Charles Deybach;
展开▼
作者单位

展开▼
年度 2001
总页数
原文格式 PDF
正文语种
中图分类

相似文献

外文文献
中文文献
专利

1. New Missense Mutation in the Human Ferrochelatase Gene in a Family with Erythropoietic Protoporphyria: Functional Studies and Correlation of Genotype and Phenotype [J] . Anita Gregor, Jean-Charles Deybach, Laurent Gouya, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2001,第6期

机译：促红细胞性原卟啉病家族中人类铁螯合酶基因的新的错义突变：功能研究和基因型和表型的相关性。
2. New Missense Mutation in the Human Ferrochelatase Gene in a Family with Erythropoietic Protoporphyria: Functional Studies and Correlation of Genotype and Phenotype [J] . Anita Gregor, Jean-Charles Deybach, Laurent Gouya, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2001,第6期

机译：促红细胞性原卟啉病家族中人类铁螯合酶基因的新的错义突变：功能研究和基因型和表型的相关性。
3. A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. [J] . Minder EI, Gouya L, Schneider Yin X, Cellular and molecular biology . 2002,第1期

机译：红细胞螯合酶基因无效等位基因突变与红细胞生成性原卟啉症患者肝并发症之间的基因型-表型相关性。
4. GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH FIBRILLIN-1 GENE MUTATIONS [C] . Christian Baumgartner, Daniela Baumgartner, Martin Eberle, Biomedical Engineering . 2005

机译：Fibrillin-1基因突变患者的基因型与表型相关性
5. Functional studies of rare CFTR missense mutations facilitate interpretation of genotype-phenotype relationships. [D] . Krasnov, Kristina V. 2009

机译：罕见CFTR错义突变的功能研究有助于解释基因型与表型的关系。
6. Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria [O] . Victoria E Parera, Rita H Koole, Gardi Minderman, 2009

机译：阿根廷红细胞生成性原卟啉症患者的新型零等位基因突变和基因型-表型相关性
7. Haplotype Analysis of Families with Erythropoietic Protoporphyria and Novel Mutations of the Ferrochelatase Gene [O] . Wang Xiuhua, Yang Lin, DeLeo Vincent A., 1999

机译：促红细胞性原卟啉病家族和铁螯合酶基因新突变的单倍型分析

New Missense Mutation in the Human Ferrochelatase Gene in a Family with Erythropoietic Protoporphyria: Functional Studies and Correlation of Genotype and Phenotype

著录项

引文网络

相似文献

相关主题

期刊订阅