Literature DB >> 1846832

Molecular studies of human genetic disease.

B J Rossiter1, C T Caskey.   

Abstract

A wide variety of techniques are available for detecting disease-causing mutations within human genes; this report provides a brief review of such procedures. Good communication and exchange of materials between the clinical genetics field and the Human Genome Initiative will benefit both.

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Year:  1991        PMID： 1846832     DOI： 10.1096/fasebj.5.1.1846832

Source DB:  PubMed          Journal:  FASEB J        ISSN： 0892-6638            Impact factor:   5.191


  3 in total

1.  The ideology of the human genome project.

Authors:  A I Tauber; S Sarkar
Journal:  J R Soc Med       Date:  1993-09       Impact factor: 5.344

2.  Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach.

Authors:  H Su; Y F Lau
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

3.  Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis.

Authors:  B Top; A van der Zee; L M Havekes; F M van 't Hooft; R R Frants
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132
  3 in total

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