Literature DB >> 1970173

Identification of an RsaI RFLP at the acid alpha glucosidase (GAA) locus.

S Tzall1, F Martiniuk, A Adler, R Hirschhorn.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 1970173      PMCID： PMC330568          DOI： 10.1093/nar/18.6.1661-a

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


× No keyword cloud information.
  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
  1 in total

1.  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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.