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Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I

Abstract Background Sialidosis type 1 (ST-1) is a rare autosomal recessive disorder caused by mutation in the NEU1 gene. However, limited reports on ST-1 patients in the Chinese mainland are available. Methods This study reported the genetic and clinical characteristics of 10 ST-1 patients from sout...

Täydet tiedot

Tallennettuna:
Päätekijät: Yi-Chu Du, Ling-Han Ma, Quan-Fu Li, Yin Ma, Yi Dong, Zhi-Ying Wu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMC 2024-09-01
Sarja:Orphanet Journal of Rare Diseases
Aiheet:
Sialidosis type I
NEU1
Founder effect
Haplotype analysis
Chinese
Linkit:https://doi.org/10.1186/s13023-024-03378-5
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