A novel mutation identified in PKHD1 by targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD family-Reference-Cited by-同舟云学术

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A novel mutation identified in PKHD1 by targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD family

Published:2014-11 Issue:1 Volume:551 Page:33-38
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Xu Yan,Xiao Bing,Jiang Wen-Ting,Wang Lei,Gen Hong-quan,Chen Ying-Wei,Sun Yu,Ji Xing

Funder

Foundation from the Institute of Shanghai Municipal Health

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference26 articles.

1. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1);Bergmann;J. Am. Soc. Nephrol.,2003

2. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD);Bergmann;Kidney Int.,2005

3. Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations;Chin;BMC Genet.,2013

4. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations;Furu;J. Am. Soc. Nephrol.,2003

5. Application of whole exome sequencing to identify disease-causing variants in inherited human diseases;Goh;Genomics Inf.,2012

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1. Exploring Genomic Approaches in Drug Discovery from Ethnomedicinal Plants;Ethnomedicinal Plants for Drug Discovery;2024

2. Biliary sepsis complication with congenital hepatic fibrosis: an unexpected outcome;BMC Infectious Diseases;2023-10-23

3. A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing;Medicine;2020-05-29

4. Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family;Molecular Medicine Reports;2019-10-11

5. Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis;Journal of Human Genetics;2016-05-26

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