About: Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease

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About: Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2014 (uk) im August 2014 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57151066-8F3079F4-60D1-4B04-A39D-BB54BFF90D38
publication date	2014-08-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57151066-AF2297F5-0A57-488F-B2B2-D9DFA23F3AE3
language of work or name	English
exact match	wds:Q57151066-CCCF52B9-10BD-4938-9997-6F60E2C6E8CB
exact match	https://scigraph.springernature.com/pub.10.1007/s12519-014-0503-z
cites work	wds:Q57151066-16A5AEB9-2895-422C-9A28-DDEF804CCB1C wds:Q57151066-190C68C7-52E0-48A6-9F42-42F1CBE4F0BA wds:Q57151066-209F1548-2BB2-4DEF-8129-D737914D288D wds:Q57151066-28F4EB97-F00C-452C-8CF8-F24BC15627AC wds:Q57151066-31AE7B2F-1D85-4BEE-9D19-D43D3EA50C6E wds:Q57151066-3F2B3211-BE6C-4B24-BFF0-2174137192D1 wds:Q57151066-58D885C6-F489-43C4-94B3-98500CEEF9B4 wds:Q57151066-5CDD4F72-584A-4B74-B8E1-8AFADFC2933E wds:Q57151066-93A1CDD6-06B2-4090-BB61-4B31D289F095 wds:Q57151066-946ADC9D-13FC-49EC-8FA9-8E043FD86B9B wds:Q57151066-A93C841A-65F9-44B1-ACF2-C31E9DFBF791 wds:Q57151066-B09A4B3A-DEFE-4C6B-8FD3-13ECBC7C3B1B wds:Q57151066-C63999AA-49B5-4620-80ED-0F3B69BDE9F7 wds:Q57151066-DEBE42C2-D9D3-4228-B49E-EA6DB3016479 wds:Q57151066-E35D1B34-C530-4165-9FB9-8B73B4230E60 wds:Q57151066-F0959099-D25B-405D-AD32-120EFD109B2C wds:Q57151066-FA4F0214-9F75-45ED-9EB4-2D0B73E7C0EA
cites work	The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats Predicting the effects of amino acid substitutions on protein function Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts Diagnosis and management of childhood polycystic kidney disease Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease
author name string	wds:Q57151066-70203F7E-4F1A-4E5C-A73B-A5F949E6ED7D wds:Q57151066-98B414F3-6C4F-4EED-A4F1-2BC613D1006E wds:Q57151066-BA3F2DCF-E785-4032-B752-509384D26E79 wds:Q57151066-BC75EFDD-E552-4882-9806-58FB09DAA52A wds:Q57151066-EF671219-39B0-4244-A7AF-1599CD547FD2
author name string	Fang Wang Jie Ding Shu-Ping Liu Yan-Qin Zhang Jin-Tang Ye
rdfs:label	Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease (en) Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease (nl)
skos:prefLabel	Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease (en) Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease (nl)
name	Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease (en) Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease (nl)
title	wds:Q57151066-247DDE4A-3014-42BC-9257-195AE2209548
title	Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease (en)
page(s)	wds:Q57151066-64EA0DFD-0E9A-41A7-9345-76ADA08D6270
page(s)	271-4
instance of	wds:Q57151066-70E789F1-B3ED-44F6-A500-B62C4EA35663
instance of	scholarly article
main subject	wds:Q57151066-99017B7E-1AF3-42D7-9253-10E40E372EF1
main subject	autosomal recessive polycystic kidney
PubMed ID	wds:Q57151066-C95252BC-86BF-4FE4-96A5-37AE7C6EE3EF
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/25124979
PubMed ID	25124979
published in	wds:Q57151066-B7BA1333-9084-4027-9268-11A9A4239DBB
published in	World Journal of Pediatrics
issue	wds:Q57151066-238BD2E3-DEC7-47BF-A3B8-025CB4E59E9B
volume	wds:Q57151066-63FDDD84-F118-46D1-B637-E9FD01ED3F61
issue	3
volume	10
DOI	wds:Q57151066-622665A6-73D2-418E-8EDC-301BF95EECF1
DOI	http://dx.doi.org/10.1007/S12519-014-0503-Z
DOI	10.1007/S12519-014-0503-Z
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57151066
is cites work of	Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
is cites work of	wds:Q33679233-1B0913F1-E847-43B9-8D5D-1984EC03A5CD wds:Q53091941-570D8649-1A8B-446D-997A-AC7DA5837179

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