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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Document Type

Article

Author

Geis, T.; Rödl, T.; Hinreiner, S.; Hehr, U.; Topaloǧlu, H.; Balci-Hayta, B.; Müller-Felber, W.; Schoser, B.; Mehraein, Y.; Hübner, A.; Zirn, B.; Hoopmann, M.; Reutter, H.; Mowat, D.; Schuierer, G.; Schara, U.; Kölbel, H.

Source

In: Orphanet Journal of Rare Diseases. (Orphanet Journal of Rare Diseases, 16 July 2019, 14(1))

Subject

Language

English

ISSN

17501172

Online Access

EBSCOHost PDF Full Text (ProQuest Central) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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