Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-0671-3.pdf
Reference4 articles.
1. Ansar M, Ranza E, Shetty M, Paracha SA, Azam M, Kern I, et al. Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. Hum Mol Genet. 2019. https://doi.org/10.1093/hmg/ddz303.
2. Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, et al. Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. FASEB J. 2019;33:11507–27. https://doi.org/10.1096/fj.201900914RR.
3. Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. 2019. https://doi.org/10.1101/563866.
4. Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Ten Kate LP, et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med. 2011;13:841–7. https://doi.org/10.1097/GIM.0b013e318217477f.
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