Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.

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Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.

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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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Melanoma cases demonstrate inc ...... hyperphenylalanemia mutations.

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Melanoma cases demonstrate inc ...... hyperphenylalanemia mutations.

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Melanoma cases demonstrate inc ...... hyperphenylalanemia mutations.

@en

Melanoma cases demonstrate inc ...... hyperphenylalanemia mutations.

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Melanoma cases demonstrate inc ...... hyperphenylalanemia mutations.

@en

Melanoma cases demonstrate inc ...... hyperphenylalanemia mutations.

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P1476

Melanoma cases demonstrate inc ...... /hyperphenylalanemia mutations

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P2093

Cheryl L Thompson

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Pauline Funchain

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Sairekha Ravichandran

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P2860

Crystal structure of the ternary complex of the catalytic domain of human phenylalanine hydroxylase with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine, and its implications for the mechanism of catalysis and substrate activation

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

The fate of BRCA1-related germline mutations in triple-negative breast tumors.

Newborn screening 50 years later: access issues faced by adults with PKU.

Glutamine up-regulates MAPK phosphatase-1 induction via activation of Ca2+→ ERK cascade pathway.

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

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

Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

Molecular characterization of phenylketonuria in South Brazil.

P304

529-533

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scholarly article

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10.1111/PCMR.12695

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P433

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P478

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Joshua Arbesman

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2018-03-12T00:00:00Z

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P698

29473999

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P921

phenylketonuria

P932

6013363

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