A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

Sandro Rossetti; Roser Torra; Eliecer Coto; Mark Consugar; Vickie Kubly; Serafin Málaga; Mercedes Navarro; Mounif El-Youssef; Vicente E Torres; Peter C Harris

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A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

机译：常染色体隐性遗传性多囊肾病（ARPKD）谱系中PKHD1的完整突变筛选

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A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.BackgroundAutosomal-recessive polycystic kidney disease (ARPKD) is an important neonatal nephropathy characterized by fusiform dilation of collecting ducts, congenital hepatic fibrosis, and in some cases Caroli's disease. The ARPKD gene, PKHD1, has recently been identified. Herein we describe an effective method for PKHD1 mutation screening and the results from analysis of a novel ARPKD cohort.

机译：常染色体隐性多囊肾病（ARPKD）谱系中PKHD1的完整突变筛查背景常染色体隐性多囊肾病（ARPKD）是一种重要的新生儿肾病，其特征是集合管呈梭形扩张，先天性肝纤维化，在某些情况下还表现为卡罗氏病。最近发现了ARPKD基因PKHD1。在本文中，我们描述了一种有效的PKHD1突变筛查方法，以及一种新型ARPKD队列分析的结果。

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《Kidney international.》 |2003年第2期|共13页
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Sandro Rossetti; Roser Torra; Eliecer Coto; Mark Consugar; Vickie Kubly; Serafin Málaga; Mercedes Navarro; Mounif El-Youssef; Vicente E Torres; Peter C Harris;
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中图分类泌尿科学（泌尿生殖系疾病）;
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1. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees [J] . Sandro Rossetti, Roser Torra, Eliecer Coto, Kidney international. . 2003,第2期

机译：常染色体隐性遗传性多囊肾病（ARPKD）谱系中PKHD1的完整突变筛选
2. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) [J] . CARSTEN BERGMANN, JAN SENDEREK, ELLEN WINDELEN, Kidney international. . 2005,第3期

机译：PKHD1突变在164例常染色体隐性隐性多囊肾病（ARPKD）患者中的临床后果
3. SAT-436 CLINICAL AND GENETIC CHARACTERISTICS OF?AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) PATIENTS FROM OMAN AND PKHD1 FOUNDER MUTATIONS [J] . I. Al Alawi, I. Al Salmi, F. Al Rahbi, Kidney International Reports . 2020,第3期

机译：SAT-436临床和遗传特征？常染色体隐性多囊肾疾病（ARPKD）来自阿曼和PKHD1创始人突变的患者
4. Automatic screening of polycystic kidney disease in x-ray CT images of laboratory mice [C] . Shaun S. Gleason, Hamed Sari-Sarraf, Michael J. Paulus, Conference on image processing . 2000

机译：实验室小鼠X射线CT图像中多囊肾病的自动筛选
5. The role of Fibrocystin-1 in focal adhesion complex regulation and function in Autosomal Recessive Polycystic Kidney Disease (ARPKD) [D] . Israeli, Sharon 2008

机译：Fibrocystin-1在常染色体隐性多囊性肾脏病（ARPKD）的黏着斑复合物调控和功能中的作用
6. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD) [O] . C Bergmann, F Kupper, C Schmitt, 2005

机译：PKHD1基因的多外显子缺失导致常染色体隐性隐性多囊肾病（ARPKD）
7. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees [O] . Rossetti Sandro, Torra Roser, Coto Eliecer, 2003

机译：常染色体隐性遗传性多囊肾疾病（ARPKD）谱系中PKHD1的完整突变筛选
8. Inducing Somatic Pkd1 Mutations in Vivo in a Mouse Model of Autosomal-Dominant Polycystic Kidney Disease. [R] . Cebrian-Ligero, C. 2018

机译：在常染色体显性多囊肾病小鼠模型中体内诱导体细胞pkd1突变。

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

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