Prevalent alms1 pathogenic variants in spanish alström patients

HIGHLIGHTS

• who: Brais Bea-Mascato et al. from the Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain have published the paper: Prevalent ALMS1 Pathogenic Variants in Spanish Alstru00f6m Patients, in the Journal: Genes 2021, 12, x FOR PEER REVIEW p.(Ser3872TyrfsTer19), of /2021/
• what: In all, we described 2 novel ALMS pathogenic variants in the exon 8 of the ALMS1 gene that leads to a truncated protein.

SUMMARY

Alström Syndrome (ALMS; OMIM #203800) is an ultrarare recessive disorder, with an estimated prevalence lower than 1 in 1,000,000 in . . .

 



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