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

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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.

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Q33679233-1B0913F1-E847-43B9-8D5D-1984EC03A5CD Q53091941-570D8649-1A8B-446D-997A-AC7DA5837179

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

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http://www.wikidata.org/entity/Q57151066

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2014

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Clinical characteristics and m ...... sive polycystic kidney disease

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Clinical characteristics and m ...... sive polycystic kidney disease

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Clinical characteristics and m ...... sive polycystic kidney disease

@en

Clinical characteristics and m ...... sive polycystic kidney disease

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Clinical characteristics and m ...... sive polycystic kidney disease

@en

Clinical characteristics and m ...... sive polycystic kidney disease

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Clinical characteristics and m ...... sive polycystic kidney disease

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Fang Wang

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Jie Ding

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Jin-Tang Ye

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Shu-Ping Liu

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Yan-Qin Zhang

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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Predicting the effects of amino acid substitutions on protein function

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

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.

Diagnosis and management of childhood polycystic kidney disease.

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

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s12519-014-0503-z

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271-4

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scholarly article

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10.1007/S12519-014-0503-Z

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English

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2014-08-01T00:00:00Z

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25124979

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Autosomal recessive polycystic kidney

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

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P2860

P2860

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

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type

label

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P577

P698

P921