Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

CONCLUSION: This study is the first comprehensive research from Turkey that provides information about disease-causing variants in the GCDH gene. The identification of common variants and hot spot regions of the GCDH gene is important for genetic counselling and the prenatal diagnosis of Turkish patients with GA1. PMID: 32777384 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32777384?dopt=Abstract

Source: European Journal of Medical Genetics - August 6, 2020 Category: Genetics & Stem Cells Authors: Gürbüz BB, Yılmaz DY, Coşkun T, Tokatlı A, Dursun A, Sivri HS Tags: Eur J Med Genet Source Type: research