(Q34514814)

2 August 2017

title

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

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2 August 2017

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Beltcheva O

1

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2 August 2017

Martin P

series ordinal

2

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2 August 2017

Lenkkeri U

series ordinal

3

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2 August 2017

Tryggvason K

series ordinal

4

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2 August 2017

publication date

1 May 2001

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2 August 2017

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2 August 2017

volume

17

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2 August 2017

issue

5

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2 August 2017

page(s)

368-373

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Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type

2 August 2017

cites work

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

21 January 2018

1 reference

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

21 January 2018

1 reference

Disease gene mapping in isolated human populations: the example of Finland

21 January 2018

1 reference

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

21 January 2018

1 reference

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

21 January 2018

1 reference

Maternal serum alpha-fetoprotein levels in congenital nephrotic syndrome carrier pregnancies

21 January 2018

1 reference

7 January 2021

Maternal serum alpha-fetoprotein levels in congenital nephrosis

1 reference

7 January 2021

Main features of the congenital nephrotic syndrome.

1 reference

7 January 2021

Prenatal screening for congenital nephrosis in east Finland: results and impact on the birth prevalence of the disease

1 reference

7 January 2021

Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis

1 reference

7 January 2021

Congenital nephrotic syndrome in mice lacking CD2-associated protein

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7 January 2021

Identifiers

DOI

10.1002/HUMU.1111

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2 August 2017

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