gen
- Examples
Además, mutaciones en el gen RLBP1 causan Retinosis Punctata Albescens. | Moreover, mutations in the RLBP1 gene cause Retinitis Punctata Albescens. |
Las mutaciones en el gen ALDH7A1 están asociados con piridoxina-dependiente epilepsia. | Mutations in the ALDH7A1 gene are associated with pyridoxine-dependent epilepsy. |
La AIED está causada por mutaciones en el gen CACNA1F. | AIED is caused by mutations in the CACNA1F gene. |
La esclerostina es una proteína codificada por el gen SOST. | Sclerostin is a protein coded by the SOST gene. |
Tibsovo bloquea la proteína elaborada por el gen IDH1 mutado. | Tibsovo blocks the protein made by the mutated IDH1 gene. |
Idhifa bloquea la proteína elaborada por el gen IDH2 mutado. | Idhifa blocks the protein made by the mutated IDH2 gene. |
También hay tres alelos conocidos en el gen ADH1C. | There are also three known alleles in the ADH1C gene. |
Además, el gen de Reelin se ha asociado a autismo. | In addition, the Reelin gene has been associated with autism. |
Este déficit está causado por mutaciones en el gen MUT (6p21). | This deficiency is caused by mutations in the MUT gene (6p21). |
Eres positiva para la mutación en el gen BRCA1. | You are positive for a mutation in the BRCA1 gene. |
Algunos de estos están encontrado en el gen LMNA. | Some of these are found on the LMNA gene. |
Terapia dirigida (crizotinib) para pacientes con cambios en el gen ALK. | Targeted therapy (crizotinib) for patients with changes in the ALK gene. |
Las mutaciones en el gen Brn-3c se han asociado a SORDERA. | Mutations in the Brn-3c gene have been associated with DEAFNESS. |
En seres humanos es codificada por el gen de MSTN. | In humans it is encoded by the MSTN gene. |
Se genera por una anormalidad en el gen REQL4. | It is caused by an abnormality in the REQL4 gene. |
El trastorno es causado por mutaciones en el gen ACAD8 (11q25). | The disorder is caused by mutations in the ACAD8 gene (11q25). |
Los portadores pueden extender el gen afectado en la población. | The carriers can spread the diseased gene in the population. |
La enzima SBCAD está codificada por el gen ACADSB. | The SBCAD enzyme is encoded by the ACADSB gene. |
En los humanos es codificada por el gen CHEK2. | In humans it is encoded by the CHEK2 gene. |
El brigatinib bloquea ciertas proteínas elaboradas por el gen ALK. | Brigatinib blocks certain proteins made by the ALK gene. |
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