A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria (Q38733046)

5 September 2017

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title

A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria (English)

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5 September 2017

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S S Sommer

1

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5 September 2017

J D Cassady

series ordinal

2

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5 September 2017

J L Sobell

series ordinal

3

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5 September 2017

C D Bottema

series ordinal

4

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5 September 2017

language of work or name

English

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publication date

1 November 1989

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5 September 2017

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5 September 2017

volume

64

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5 September 2017

issue

11

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5 September 2017

page(s)

1361-1372

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Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria

5 September 2017

cites work

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Phenylketonuria and other phenylalanine hydroxylation mutants in man.

7 January 2021

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Psychiatric diagnosis and behavioral characteristics of phenylketonuric children

7 January 2021

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

7 January 2021

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Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

7 January 2021

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An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

7 January 2021

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Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

7 January 2021

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Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

7 January 2021

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Detection of single base substitutions in total genomic DNA

7 January 2021

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Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

7 January 2021

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A Ligase-Mediated Gene Detection Technique

7 January 2021

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Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

7 January 2021

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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

7 January 2021

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Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

7 January 2021

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

7 January 2021

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Parameters affecting the yield of DNA from human blood

7 January 2021

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Reduction in the rate of DNA reassociation by sequence divergence

7 January 2021

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Genomic amplification with transcript sequencing

7 January 2021

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Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

7 January 2021

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Analytical strategies for the use of DNA probes

7 January 2021

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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

7 January 2021

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Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

7 January 2021

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

7 January 2021

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10.1016/S0025-6196(12)65378-6

7 January 2021

Identifiers

DOI

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5 September 2017

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