Journey into silence
Pedro León Azofeifa
Licencia de minería de texto y datos
Esta publicación no tiene una declaración de licencia TDM (minería de texto y datos) registrada. La editorial titular puede declararla desde su cuenta en SIMEH; quedará publicada aquí con fecha y hora certificadas.
Formatos
| Formato | ISBN | Recordreference | DOI | Año |
|---|---|---|---|---|
| E-book · ed. 1 | 9789977665696 | SIMEHEBOOKE1DT4FNIZWF69OZQN8Z4 | — | 2017 |
Sobre esta obra
In 1604, Felipe Monje Merino arrived in the New World with dreams of conquest but eventually settled in Cartago, Costa Rica, marrying Francisca López and having two children. Six generations later, three descendants with the surname Monge experienced late-onset deafness, despite being born with normal hearing. This deafness, starting with low-frequency loss, is caused by a dominant genetic mutation resulting from a single-letter change in a gene called human diaphanous 1, which regulates the actin cytoskeleton of hair cells in the organ of Corti, responsible for sensing sound vibrations. The book recounts the search for this mutation and its discovery, achieved through collaboration between the Monge family and scientists from Costa Rica and the USA.