Titre : | 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. |
Revue : | American journal of human genetics (The), 49 |
Auteurs : | Zhong N ; Martiniuk F ; Tzall S ; Hirschhorn R |
Type de document : | Article |
Année de publication : | 1991 |
Pages : | p. 635-645 |
Langues: | Anglais |
Mots-clés : | maladie de Pompe ; PCR |