Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

about

A novel gene mutation of Runx2 in cleidocranial dysplasia.

P2860

Q47602200-32593CD1-843D-467C-B047-5B2835A378CA

P2860

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

Item

http://www.wikidata.org/entity/Q51381984

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

@en

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

@nl

type

Item

label

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

@en

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

@nl

prefLabel

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

@en

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

@nl

P1476

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

@en

P2093

Bei Liu

http://www.w3.org/2001/XMLSchema#string

Chao-Hong Fu

http://www.w3.org/2001/XMLSchema#string

Hang Liu

http://www.w3.org/2001/XMLSchema#string

Hong-Bo Luo

http://www.w3.org/2001/XMLSchema#string

Hong-Yun Zheng

http://www.w3.org/2001/XMLSchema#string

Jian Gu

http://www.w3.org/2001/XMLSchema#string

Yan Li

http://www.w3.org/2001/XMLSchema#string

Yong-Qing Tong

http://www.w3.org/2001/XMLSchema#string

P2860

Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy

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

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

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.

A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.

Evaluation of next generation sequencing platforms for population targeted sequencing studies.

High-quality genomic DNA extraction from formalin-fixed and paraffin-embedded samples deparaffinized using mineral oil.

Formalin-fixed paraffin-embedded clinical tissues show spurious copy number changes in array-CGH profiles.

Long-range PCR in next-generation sequencing: comparison of six enzymes and evaluation on the MiSeq sequencer.

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

P304

758-766

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/S11596-016-1658-8

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2016-10-18T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27752906

http://www.w3.org/2001/XMLSchema#string

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

about

P2860

P2860

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698