- Titel:
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
- Dokumenttyp:
- Zeitschriftenaufsatz
- Autor(en):
- Geis, Tobias; Rödl, Tanja; Topaloğlu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Kölbel, Heike
- Zeitschriftentitel:
- Orphanet Journal of Rare Diseases
- Jahr:
- 2019
- Band / Volume:
- 14
- Heft / Issue:
- 1
- Volltext / DOI:
- doi:10.1186/s13023-019-1119-0
- Verlag / Institution:
- Springer Science and Business Media LLC
- E-ISSN:
- 1750-1172
- Publikationsdatum:
- 16.07.2019
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