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

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

Author: Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Mueller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Huebner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Koelbel, Heike
Tübinger Autor(en):
Hoopmann, Markus
Published in: Orphanet Journal of Rare Diseases (2019), Bd. 14, Article 179
Verlagsangabe: Bmc
Language: English
Full text: http://dx.doi.org/10.1186/s13023-019-1119-0
ISSN: 1750-1172
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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