(Q39585151)

13 September 2017

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria (English)

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13 September 2017

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5

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13 September 2017

M Weinstein

1

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13 September 2017

R C Eisensmith

2

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13 September 2017

V Abadie

3

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13 September 2017

S Avigad

4

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13 September 2017

G Schwartz

6

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13 September 2017

A Munnich

7

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13 September 2017

S L Woo

8

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13 September 2017

Y Shiloh

9

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13 September 2017

1 February 1993

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13 September 2017

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13 September 2017

90

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13 September 2017

6

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13 September 2017

645-649

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https://scigraph.springernature.com/pub.10.1007/bf00202483

13 September 2017

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cites work

Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants

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12 December 2020

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

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12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

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12 December 2020

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

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12 December 2020

Biochemical characterization of recombinant human phenylalanine hydroxylase produced in Escherichia coli.

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12 December 2020

Phenylalaninaemia. Differential diagnosis

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12 December 2020

Expression of a preproinsulin-beta-galactosidase gene fusion in mammalian cells

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12 December 2020

Phenylketonuria (PKU) in Israel

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12 December 2020

Electroporation for the efficient transfection of mammalian cells with DNA.

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12 December 2020

Phenylketonuria and the phenylalanine hydroxylase gene.

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12 December 2020

Molecular basis and population genetics of phenylketonuria

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12 December 2020

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

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12 December 2020

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

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12 December 2020

MICROMETHODS FOR MEASURING PHENYLALANINE AND TYROSINE IN SERUM

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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12 December 2020

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

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12 December 2020

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

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12 December 2020

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

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12 December 2020

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

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12 December 2020

Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man

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12 December 2020

Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus

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12 December 2020

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria

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12 December 2020

Mendelian hyperphenylalaninemia

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12 December 2020

Molecular and cytologic analysis of DNA amplification in retinoblastoma

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12 December 2020

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples

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12 December 2020

Gene transfer and expression of human phenylalanine hydroxylase

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12 December 2020

A single origin of phenylketonuria in Yemenite Jews

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12 December 2020

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

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12 December 2020

Identifiers

DOI

10.1007/BF00202483

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13 September 2017

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