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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease ; volume:16 ; number:1 ; day:26 ; month:10 ; year:2015 ; pages:1-6 ; date:12.2015
BMC medical genetics ; 16, Heft 1 (26.10.2015), 1-6, 12.2015

Creator: Miyazaki, Jun

Contributor: Ito, Mayuko
Nishizawa, Haruki
Kato, Takema
Minami, Yukito
Inagaki, Hidehito
Ohye, Tamae
Miyata, Masafumi
Boda, Hiroko
Kiriyama, Yuka
Kuroda, Makoto
Sekiya, Takao
Kurahashi, Hiroki
Fujii, Takuma
SpringerLink (Online service)

DOI: 10.1186/s12881-015-0245-3

URN: urn:nbn:de:1111-201611057449

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:50 AM CEST

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Associated

Miyazaki, Jun
Ito, Mayuko
Nishizawa, Haruki
Kato, Takema
Minami, Yukito
Inagaki, Hidehito
Ohye, Tamae
Miyata, Masafumi
Boda, Hiroko
Kiriyama, Yuka
Kuroda, Makoto
Sekiya, Takao
Kurahashi, Hiroki
Fujii, Takuma
SpringerLink (Online service)

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

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Other Objects (12)

Early clinical management of autosomal recessive polycystic kidney disease

Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension

Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease : 39 tables

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Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

Autosomal recessive cerebellar ataxias

Early clinical management of autosomal recessive polycystic kidney disease

Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension

Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease : 39 tables

Autosomal dominant polycystic kidney disease in Colombia

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

Autosomal recessive cerebellar ataxias

Early clinical management of autosomal recessive polycystic kidney disease

Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension

Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease

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