Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

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KDIGO Clinical Practice Guideline on the Evaluation and Care of Living Kidney Donors.Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

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Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

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http://www.wikidata.org/entity/Q38916205

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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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

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2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Identification of 47 novel mut ...... basement membrane nephropathy.

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type

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Identification of 47 novel mut ...... basement membrane nephropathy.

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Identification of 47 novel mut ...... basement membrane nephropathy.

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P1476

Identification of 47 novel mut ...... basement membrane nephropathy.

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P2093

Achim Kittke

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

Bärbel Lange-Sperandio

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

Hanns-Georg Klein

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

Julia Hoefele

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

Katja Strasser

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

Lutz T Weber

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

Marcus R Benz

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

Martin Alberer

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

Peter F Hoyer

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

Sabine Ponsel

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P2860

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

Thin basement membrane nephropathy

A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy

Thin basement membrane nephropathy associated with minimal change disease in a 15-year-old boy

Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Thin basement membrane nephropathy.

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s00467-015-3302-4

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941-955

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scholarly article

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10.1007/S00467-015-3302-4

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2016-01-25T00:00:00Z

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Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

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P2860

P2860

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

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