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Autor:
Dijk, T. van, Ruissen, F. van, Jaeger, B., Rodenburg, R.J.T., Tamminga, S., Maarle, M. van, Baas, F., Wolf, N.I., Poll-The, B.T.
Publikováno v:
Jimd Reports, 33, 87-92
JIMD reports, 33, 87-92. Springer Berlin
Jimd Reports, 33, pp. 87-92
JIMD reports, 33, 87-92. Springer Berlin
Jimd Reports, 33, pp. 87-92
Item does not contain fulltext Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6). Here we report two patients, compound heterozygous for RARS2 mutations, presenting with e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e67f7c357f064c44ad4d22f4b6b99473
http://hdl.handle.net/2066/173929
http://hdl.handle.net/2066/173929
