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Are Consanguineous Marriages to Blame for Usher Syndrome Type 1, a Rare Disease in Pakistan?

Usher syndrome type I is a rare genetic autosomal recessive disease caused by mutations in specific genes that provide instructions for making proteins involved in normal hearing, vision, and balance. It is characterized by hearing impairment due to the inability of auditory nerves to send sensory i...

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Dades bibliogràfiques
Publicat a:Cureus
Autors principals: Awan, Ali I, Abdul Raffay, Eusha, Liaqat, Ayesha, Hassan, Taimoor, Khan, Maria
Format: Artigo
Idioma:Inglês
Publicat: Cureus 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7682543/
https://ncbi.nlm.nih.gov/pubmed/33240713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.11117
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