Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

Bury, Loredana; Megy, Karyn; Stephens, Jonathan C.; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K.; Bonduel, Mariana; Butta, Nora, V; Collins, Peter; Curry, Nicola; Deevi, Sri V. V.; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P.; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M.; Penkett, Christopher; Perry, David J.; Stirrups, Kathleen E.; Turro, Ernest; Westbury, Sarah K.; Wu, John; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H.; Gresele, Paolo; Simeoni, Ilenia

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

Autor(en):

Bury, Loredana; Megy, Karyn; Stephens, Jonathan C.; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K.; Bonduel, Mariana; Butta, Nora, V; Collins, Peter; Curry, Nicola; Deevi, Sri V. V.; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P.; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M.; Penkett, Christopher; Perry, David J.; Stirrups, Kathleen E.; Turro, Ernest; Westbury, Sarah K.; Wu, John; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H.; Gresele, Paolo; Simeoni, Ilenia

Tübinger Autor(en):

Althaus, Karina
Gomez, Keith

Erschienen in:

Human Mutation (2020), Bd. 41, H. 1, S. 277-290

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/humu.23927

ISSN:

1098-1004