(Q43067246)

13 November 2017

title

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer (English)

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13 November 2017

author

Brage Storstein Andresen

series ordinal

4

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13 November 2017

Steven F Dobrowolski

1

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13 November 2017

Henriette S Andersen

series ordinal

2

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13 November 2017

Thomas K Doktor

series ordinal

3

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13 November 2017

language of work or name

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14 April 2010

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Molecular Genetics and Metabolism

13 November 2017

published in

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13 November 2017

volume

100

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13 November 2017

issue

4

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13 November 2017

page(s)

316-323

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A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

13 November 2017

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Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

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The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

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G Triplets Located throughout a Class of Small Vertebrate Introns Enforce Intron Borders and Regulate Splice Site Selection

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Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

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The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study

7 January 2021

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10.1016/J.YMGME.2010.04.002

7 January 2021

Identifiers

DOI

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13 November 2017

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