Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria.

Nucleic acids research ·Vol. 19 ·No. 9 ·1991-05-11 ·Pages 2500

Dockhorn-Dworniczak B, Dworniczak B, Brömmelkamp L, Bülles J, Horst J, Böcker WW

Abstract

暂无摘要

MeSH Terms

DNA, Single-Stranded/analysis,genetics Female Genetic Techniques Humans Male Mutation Nucleic Acid Conformation Pedigree Phenylketonurias/diagnosis,genetics Polymerase Chain Reaction Polymorphism, Genetic

Chemicals

DNA, Single-Stranded

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Dockhorn-Dworniczak B

Gerhard Domagk Institute of Pathology, WWU Münster, Freiburg, FRG.

Dworniczak B

Brömmelkamp L

Bülles J

Horst J

Böcker W W

References (5)

5 references, click to expand

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.
Clin Genet. 1990 Oct;38(4):270-3 PMID: 2268974
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
Genomics. 1991 Jan;9(1):193-9 PMID: 1672290
Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
Hum Genet. 1989 Dec;84(1):95-6 PMID: 2606484
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.
Genomics. 1989 Nov;5(4):874-9 PMID: 2687159
Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant.
Nucleic Acids Res. 1991 Jan 25;19(2):405-6 PMID: 2014179

Article Info

Journal

Nucleic acids research

Abbr.

Nucleic Acids Res

ISSN

0305-1048

DOI

10.1093/nar/19.9.2500

Published

1991-05-11

Pages

2500

Language

English

Region

England

NLM ID

0411011

PMCID

PMC329468

Subset

External Links

PubMed source DOI: 10.1093/nar/19.9.2500 PMC Full Text View journal details

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Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria.

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