Literature DB >> 1990848

Heterozygotes and homozygotes: discrimination by chemical cleavage of mismatch.

I Dianzani, S M Forrest, C Camaschella, E Gottardi, R G Cotton.   

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Year:  1991        PMID： 1990848      PMCID： PMC1683021     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  2 in total

Review 1.  Molecular basis and prenatal diagnosis of beta-thalassemia.

Authors:  H H Kazazian; C D Boehm
Journal:  Blood       Date:  1988-10       Impact factor: 22.113

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

Authors:  R G Cotton; N R Rodrigues; R D Campbell
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205
  2 in total
  6 in total

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

Authors:  S M Forrest; H H Dahl; D W Howells; I Dianzani; R G Cotton
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

2.  Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

Authors:  I Dianzani; S M Forrest; C Camaschella; G Saglio; A Ponzone; R G Cotton
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

3.  Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

Authors:  I Dianzani; C Camaschella; G Saglio; G B Ferrero; S Ramus; A Ponzone; R G Cotton
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

4.  Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

Authors:  D P Germain; J P Puech; C Caillaud; A Kahn; L Poenaru
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

5.  Efficient detection of point mutations on color-coded strands of target DNA.

Authors:  E Verpy; M Biasotto; T Meo; M Tosi
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-01       Impact factor: 11.205

6.  Zinc finger point mutations within the WT1 gene in Wilms tumor patients.

Authors:  M H Little; J Prosser; A Condie; P J Smith; V Van Heyningen; N D Hastie
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205
  6 in total

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