Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

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Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

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Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

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Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

@en

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

@nl

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Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

@en

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

@nl

P1476

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

@en

P2093

Ahmed N Mohammad

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Anjali Agarwal

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Mohamedanwar Ghandour

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Nabeel Aslam

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Stephanie L Hines

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P2860

A global reference for human genetic variation

Analysis of protein-coding genetic variation in 60,706 humans

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

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure

MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

Trends in the epidemiology of focal segmental glomerulosclerosis.

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

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease

P304

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P31

scholarly article

P356

10.1038/S41439-018-0016-8

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P478

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P50

Paldeep S Atwal

P577

2018-07-10T00:00:00Z

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P698

30002862

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P932

6039481

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