Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan

BACKGROUND: Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a deficiency HGD enzyme activity results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. METHODS: We clinically evaluated 18 alkapt...

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Detalles Bibliográficos
Autores principales: Khalil, Raida, Ali, Dema, Mwafi, Nesrin, Alsaraireh, Arwa, Obeidat, Loiy, Albsoul, Eman, Al Sbou', Ibrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8216811/
https://www.ncbi.nlm.nih.gov/pubmed/34235214
http://dx.doi.org/10.1155/2021/1515641

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