Nonsense Mutation in the Phosphofructokinase Muscle Subunit Gene Associated with Retention of Intron 10 in One of the Isolated Transcripts in Ashkenazi Jewish Patients with Tarui Disease

Autor: Vasconcelos, Olavo, Sivakumar, Kumaraswamy, Dalakas, Marinos C., Quezado, Martha, Nagle, James, Leon-Monzon, Marta, Dubnick, Mark, Gajdusek, D. Carleton, Goldfarb, Lev G.
Zdroj: Proceedings of the National Academy of Sciences of the United States of America, 1995 Oct . 92(22), 10322-10326.
Databáze: JSTOR Journals