Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

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Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

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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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Tumour risks and genotype–phen ...... nit genes SDHB, SDHC and SDHD.

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Tumour risks and genotype–phen ...... nit genes SDHB, SDHC and SDHD.

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Tumour risks and genotype–phen ...... nit genes SDHB, SDHC and SDHD.

@en

Tumour risks and genotype–phen ...... nit genes SDHB, SDHC and SDHD.

@nl

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Tumour risks and genotype–phen ...... nit genes SDHB, SDHC and SDHD.

@en

Tumour risks and genotype–phen ...... nit genes SDHB, SDHC and SDHD.

@nl

P1476

Tumour risks and genotype–phen ...... nit genes SDHB, SDHC and SDHD.

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P2093

Alan Donaldson

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Alan Fryer

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Carole Brewer

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Colin G Perry

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Daniel R Barnes

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David B Ascher

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David Goudie

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Douglas Eduardo Valente Pires

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Eamonn R Maher

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Emma R Woodward

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P2860

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.

Crystal structure of mitochondrial respiratory membrane protein complex II

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

ClinVar: public archive of interpretations of clinically relevant variants

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity.

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1-11

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scholarly article

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English

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P478

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P50

Antonis C Antoniou

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2018-01-31T00:00:00Z

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P932

5992372

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