Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

@nl

P1476

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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P2093

Hideki Shimomura

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Hideo Sasai

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Kei Murayama

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Kimitoshi Nakamura

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Maiko Misaki

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Osamu Ohara

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Ryoji Fujiki

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Satoru Yoshida

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Tomoko Lee

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Toshiyuki Fukao

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P2860

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

Ornithine transcarbamylase deficiency: a urea cycle defect.

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

Long-term treatment of girls with ornithine transcarbamylase deficiency.

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

P2888

s41439-018-0022-x

P304

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P31

scholarly article

case report

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10.1038/S41439-018-0022-X

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P407

English

P433

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P478

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P577

2018-01-01T00:00:00Z

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P698

30131866

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P932

6095930

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