Literature DB >> 1970872

Further characterization of SacI RFLPs at the acid alpha glucosidase (GAA) locus.

S Tzall1, F Martiniuk, R Hirschhorn.   

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Year:  1990        PMID： 1970872      PMCID： PMC330657          DOI： 10.1093/nar/18.7.1930-a

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  1 in total

1.  Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

Authors:  F Martiniuk; M Mehler; A Pellicer; S Tzall; G La Badie; C Hobart; A Ellenbogen; R Hirschhorn
Journal:  Proc Natl Acad Sci U S A       Date:  1986-12       Impact factor: 11.205
  1 in total
  2 in total

1.  Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus.

Authors:  S Tzall; F Martiniuk; L Ozelius; J Gusella; R Hirschhorn
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971

2.  Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.

Authors:  N Zhong; F Martiniuk; S Tzall; R Hirschhorn
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025
  2 in total

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