Availability: Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma:

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Main Authors:	Mauri, Lucia (Author), Uebe, Steffen (Author), Sticht, Heinrich (Author), Vossmerbaeumer, Urs (Author), Weisschuh, Nicole (Author), Manfredini, Emanuela (Author), Maselli, Edoardo (Author), Patrosso, Mariacristina (Author), Weinreb, Robert N. (Author), Penco, Silvana (Author), Reis, Andre (Author), Pasutto, Francesca (Author)
Format:	Electronic eBook
Language:	English
Published:	Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2016
Subjects:	Congenital glaucoma Early onset glaucoma Osteogenesis imperfecta Whole exome sequencing
Links:	https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80912 http://d-nb.info/1123284733/34 https://open.fau.de/handle/openfau/8091
Item Description:	Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0495-y>
Physical Description:	Online-Ressource
Format:	Langzeitarchivierung gewährleistet, LZA

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spelling	Mauri, Lucia Verfasser aut Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis, Francesca Pasutto Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2016 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0495-y> Langzeitarchivierung gewährleistet, LZA Congenital glaucoma Early onset glaucoma Osteogenesis imperfecta Whole exome sequencing Uebe, Steffen Verfasser aut Sticht, Heinrich Verfasser aut Vossmerbaeumer, Urs Verfasser aut Weisschuh, Nicole Verfasser aut Manfredini, Emanuela Verfasser aut Maselli, Edoardo Verfasser aut Patrosso, Mariacristina Verfasser aut Weinreb, Robert N. Verfasser aut Penco, Silvana Verfasser aut Reis, Andre Verfasser aut Pasutto, Francesca Verfasser aut https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80912 Resolving-System kostenfrei Volltext http://d-nb.info/1123284733/34 Langzeitarchivierung Nationalbibliothek kostenfrei Volltext https://open.fau.de/handle/openfau/8091 Verlag kostenfrei Volltext
spellingShingle	Mauri, Lucia Uebe, Steffen Sticht, Heinrich Vossmerbaeumer, Urs Weisschuh, Nicole Manfredini, Emanuela Maselli, Edoardo Patrosso, Mariacristina Weinreb, Robert N. Penco, Silvana Reis, Andre Pasutto, Francesca Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title	Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title_auth	Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title_exact_search	Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title_full	Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis, Francesca Pasutto
title_fullStr	Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis, Francesca Pasutto
title_full_unstemmed	Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis, Francesca Pasutto
title_short	Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title_sort	expanding the clinical spectrum of col1a1 mutations in different forms of glaucoma
url	https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80912 http://d-nb.info/1123284733/34 https://open.fau.de/handle/openfau/8091
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