A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.

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A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.

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A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.

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A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.

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P1476

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.

@en

P2093

Eihiko Takahashi

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Fusako Hashimoto

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Hiroki Kurahashi

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Hiromi Ohtsubo

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Hiroshi Kaito

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Kandai Nozu

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Kazumoto Iijima

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Koichi Nakanishi

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Mariko Taniguchi-Ikeda

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Naoya Morisada

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P2860

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

Complex and segmental uniparental disomy updated.

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Genomic rearrangements in inherited disease and cancer.

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

Natural history of genetically proven autosomal recessive Alport syndrome.

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

P2888

hgv.2014.6

P304

14006

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P31

scholarly article

P356

10.1038/HGV.2014.6

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P478

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P577

2014-08-07T00:00:00Z

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P5875

275193884

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P698

27081500

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P932

4785521

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