Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.

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Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.

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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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2014年学术文章

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2014年学术文章

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Somatic mosaicism in MYH9 diso ...... te apparently healthy parents.

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Somatic mosaicism in MYH9 diso ...... te apparently healthy parents.

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Somatic mosaicism in MYH9 diso ...... te apparently healthy parents.

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Somatic mosaicism in MYH9 diso ...... te apparently healthy parents.

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Somatic mosaicism in MYH9 diso ...... te apparently healthy parents.

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Somatic mosaicism in MYH9 diso ...... te apparently healthy parents.

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P1476

Somatic mosaicism in MYH9 diso ...... te apparently healthy parents.

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P2093

Hidehiko Saito

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Katsumasa Kitamura

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Shinji Kunishima

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Tae Matsumoto

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Takashi Sekine

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P2860

First description of somatic mosaicism in MYH9 disorders.

Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24.

Advances in the understanding of MYH9 disorders.

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature.

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.

Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents.

Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

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885-887

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scholarly article

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10.1111/BJH.12797

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English

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P478

165

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P577

2014-02-24T00:00:00Z

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P5875

260680825

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24611568

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