High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

Diamond-Blackfan anemia is an autosomal dominant disease due to mutations in nine ribosomal protein encoding genes. Because most mutations are loss of function and detected by direct sequencing of coding exons, we reasoned that part of the approximately 50% mutation negative patients may have carrie...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Quarello, Paola, Garelli, Emanuela, Brusco, Alfredo, Carando, Adriana, Mancini, Cecilia, Pappi, Patrizia, Vinti, Luciana, Svahn, Johanna, Dianzani, Irma, Ramenghi, Ugo
Формат: Artigo
Язык:Inglês
Опубликовано: Ferrata Storti Foundation 2012
Предметы:
Original Articles and Brief Reports
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3590087/
https://ncbi.nlm.nih.gov/pubmed/22689679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2012.062281
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы