Experiences of the molecular diagnosis of fragile X syndrome in Ecuador

Experiences of the molecular diagnosis of fragile X syndrome in Ecuador

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Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardat...

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Autors principals: Lopez Caceres, Andrea Del pilar, Pozo Palacios, Juan Carlos, Llamos Paneque, Arianne, Rivas, Christian, Onofre, Emily, Villareal, Jennifer
Format: ARTÍCULO
Idioma:es_ES
Publicat: 2022
Matèries:
Repetitions
Dynamic mutation diseases
FMR1
Fragile X syndrome
Intellectual disabilities
Accés en línia:http://dspace.ucuenca.edu.ec/handle/123456789/37996
https://www.scopus.com/record/display.uri?eid=2-s2.0-85121809131&origin=resultslist&sort=plf-f&src=s&st1=Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador&sid=9c81de9cf244c46ca8aa3c7d76c0e1d4&sot=b&sdt=b&sl=86&s=TITLE-ABS-KEY%28Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador%29&relpos=0&citeCnt=0&searchTerm=

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http://dspace.ucuenca.edu.ec/handle/123456789/37996
https://www.scopus.com/record/display.uri?eid=2-s2.0-85121809131&origin=resultslist&sort=plf-f&src=s&st1=Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador&sid=9c81de9cf244c46ca8aa3c7d76c0e1d4&sot=b&sdt=b&sl=86&s=TITLE-ABS-KEY%28Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador%29&relpos=0&citeCnt=0&searchTerm=

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