Literature DB >> 10472528

Diagnostic uses of DNA analysis: powerful but problematic.

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Abstract

Mesh:

Year:  1999        PMID: 10472528     DOI: 10.1023/a:1017234414559

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


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  9 in total

1.  Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.

Authors:  Y S Shin; J Zschocke; A M Das; T Podskarbi
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

Review 2.  Automated mutation analysis.

Authors:  D Ravine
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Proof of "disease causing" mutation.

Authors:  R G Cotton; C R Scriver
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

4.  Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

Authors:  S E Antonarakis
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

5.  Direct DNA analysis in family studies.

Authors:  S Malcolm
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

6.  Applications and limitations of direct DNA analysis in genetic prediction.

Authors:  M E Pembrey
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 7.  Carrier screening in the community.

Authors:  D J Brock
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

8.  Genomics, mutations and the Internet: the naming and use of parts.

Authors:  C R Scriver; P M Nowacki
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

9.  Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.

Authors:  J Zschocke; E Quak; A Knauer; B Fritz; M Aslan; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

  9 in total

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