A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

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A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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A novel nonsense mutation in N ...... d with congenital nephropathy?

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A novel nonsense mutation in N ...... d with congenital nephropathy?

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prefLabel

A novel nonsense mutation in N ...... d with congenital nephropathy?

@en

P1476

A novel nonsense mutation in N ...... d with congenital nephropathy?

@en

P2093

Akl Fahed

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

Ayman Soubra

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

Fadi Bitar

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

Inaam El-Rassy

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

Lara Gharibeh

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Mariam Arabi

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

Rachel Tanos

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

Raya Safa

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Zakaria Kambris

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P2860

Mutations in NOTCH1 cause aortic valve disease

Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

The podocyte protein nephrin is required for cardiac vessel formation

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Loss of Gata5 in mice leads to bicuspid aortic valve.

Molecular genetics of aortic valve disease.

P2888

s12041-015-0514-0

P304

309-312

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P31

scholarly article

P356

10.1007/S12041-015-0514-0

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P433

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

P478

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

P50

Georges Nemer

P577

2015-06-01T00:00:00Z

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P5875

277882233

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P698

26174680

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P921

aorta

birth defect