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.
Nanbert Zhong(Columbia University Irving Medical Center), Rochelle Hirschhorn(New York University), Frank Martiniuk(Psychogenics (United States)), S Tzall(Albert Einstein College of Medicine)
PubMed
September 1, 1991
Cited by 51
Related Papers
A mechanism for the antiinflammatory effects of corticosteroids: the glucocorticoid receptor regulates leukocyte adhesion to endothelial cells and expression of endothelial-leukocyte adhesion molecule 1 and intercellular adhesion molecule 1.
|Proceedings of the National Academy of Sciences|1992|730
STUDIES ON LYSOSOMES
|The Journal of Cell Biology|1968|234
Topical TLR7 Agonist Imiquimod Can Induce Immune-Mediated Rejection of Skin Metastases in Patients with Breast Cancer
|Clinical Cancer Research|2012|225
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease
|American Journal of Medical Genetics|1998|214
Identification of two subtypes of infantile acid maltase deficiency
|The Journal of Pediatrics|2000|167