Literature DB >> 8488832

Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation?

J Zlotogora.   

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Year:  1993        PMID： 8488832      PMCID： PMC1682061     

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


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  4 in total

1.  Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred.

Authors:  A E Thigpen; D L Davis; T Gautier; J Imperato-McGinley; D W Russell
Journal:  N Engl J Med       Date:  1992-10-22       Impact factor: 91.245

2.  Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.

Authors:  A C Syvänen; E Ikonen; T Manninen; M Bengtström; H Söderlund; P Aula; L Peltonen
Journal:  Genomics       Date:  1992-03       Impact factor: 5.736

3.  A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

Authors:  B L Triggs-Raine; E H Mules; M M Kaback; J S Lim-Steele; C E Dowling; B R Akerman; M R Natowicz; E E Grebner; R Navon; J P Welch
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

4.  The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

Authors:  G A McDowell; E H Mules; P Fabacher; E Shapira; M G Blitzer
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025
  4 in total
  1 in total

1.  Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

Authors:  U Heinisch; J Zlotogora; S Kafert; V Gieselmann
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  1 in total

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