Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

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Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

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作者：Jun Miyazaki ; Mayuko Ito ; Haruki Nishizawa ; Takema Kato…
关键词：ARPKD ; Prenatal diagnosis ; Target exome ; PKHD1 ; Duplication
刊名：BMC Medical Genetics
出版年：2015
出版时间：December 2015
年：2015
卷：16
期：1
全文大小：1,165 KB
刊物主题：Human Genetics; Genetics and Population Dynamics;
出版者：BioMed Central
ISSN：1471-2350

文摘

Background In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD).