Literature DB >> 2246864

Simple and rapid detection of phenylketonuria mutation tightly linked to haplotype 2 by modified polymerase chain reaction.

Y Matsubara1, K Narisawa, K Tada.   

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Year:  1990        PMID: 2246864     DOI: 10.1007/bf01799586

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  5 in total

1.  DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening.

Authors:  E R McCabe; S Z Huang; W K Seltzer; M L Law
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

2.  Modification of enzymatically amplified DNA for the detection of point mutations.

Authors:  A Haliassos; J C Chomel; L Tesson; M Baudis; J Kruh; J C Kaplan; A Kitzis
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

3.  Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

Authors:  A G DiLella; S C Kwok; F D Ledley; J Marvit; S L Woo
Journal:  Biochemistry       Date:  1986-02-25       Impact factor: 3.162

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

Authors:  A G DiLella; J Marvit; K Brayton; S L Woo
Journal:  Nature       Date:  1987 May 28-Jun 3       Impact factor: 49.962

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

Authors:  A G DiLella; W M Huang; S L Woo
Journal:  Lancet       Date:  1988-03-05       Impact factor: 79.321

  5 in total
  1 in total

Review 1.  Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

Authors:  Y Matsubara; K Narisawa; K Tada
Journal:  Eur J Pediatr       Date:  1992-03       Impact factor: 3.183

  1 in total

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