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Autor:
Auburger, Jana Key, Sylvia Torres-Odio, Nina C. Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A. Phillip West, Holger Prokisch, Peter Freisinger, William G. Newman, Stavit Shalev, Stephan A. Sieber, Ilka Wittig, Georg
Publikováno v:
Cells; Volume 10; Issue 12; Pages: 3354
Biallelic pathogenic variants in CLPP, encoding mitochondrial matrix peptidase ClpP, cause a rare autosomal recessive condition, Perrault syndrome type 3 (PRLTS3). It is characterized by primary ovarian insufficiency and early sensorineural hearing l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::d2f934177b5a03d6c9ca38d422672be6
