GUTHRIE CARDS FOR DETECTION OF POINT MUTATIONS IN PHENYLKETONURIA-Reference-Cited by-同舟云学术

GUTHRIE CARDS FOR DETECTION OF POINT MUTATIONS IN PHENYLKETONURIA

Published:1988-08 Issue:8609 Volume:332 Page:507
ISSN:0140-6736
Container-title:The Lancet
language:en
Short-container-title:The Lancet

Author:

Lyonnet S.,Caillaud C.,Rey F.,Berthelon M.,Frezal J.,Rey J.,Munnich A.

Publisher

Elsevier BV

Subject

General Medicine

Reference4 articles.

1. F. Rey, M. Berthelon, C. Caillaud, et al., Clinical and molecular heterogeneity of phenylalnine hydroxylase deficiences in France, Am J Hum Genet ((in press)).

2. DNA micro-extracted from dried blood spots on filter paper blotters: potential application to newborn screening;McCabe;Hum Genet,1987

3. Enzymatic amplification of B-globin genomic sequences and restriction site analysis for diagnosis of sickle-cell anaemia;Saiki;Science,1985

4. Analysis of enzymatically amplified B-globin and HLA-DQ DNA with allele-specific oligonucleotide probes;Saiki;Nature,1986

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1. Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card;Clinical Genetics;2008-06-28

2. A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia;Molecular and Cellular Probes;2001-02

3. The diagnosis of inborn errors of metabolism by examination of the genotype;Clinica Chimica Acta;1993-07

4. Detection of human T-cell lymphotropic virus type 1 infection by the polymerase chain reaction using dried blood specimens on filter papers;Journal of Virological Methods;1993-06

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