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The phenotype of the musculocontractural type of Ehlers‐Dan..:
Janecke, Andreas R
;
Li, Ben
;
Boehm, Manfred
...
qt61r2r3nn. , 2016
Link:
https://escholarship.org/uc/item/61r2r3nn
RT Journal T1
The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt61r2r3nn&Exemplar=1&LAN=DE A1 Janecke, Andreas R A1 Li, Ben A1 Boehm, Manfred A1 Krabichler, Birgit A1 Rohrbach, Marianne A1 Müller, Thomas A1 Fuchs, Irene A1 Golas, Gretchen A1 Katagiri, Yasuhiro A1 Ziegler, Shira G A1 Gahl, William A A1 Wilnai, Yael A1 Zoppi, Nicoletta A1 Geller, Herbert M A1 Giunta, Cecilia A1 Slavotinek, Anne A1 Steinmann, Beat PB eScholarship, University of California YR 2016 K1 Biomedical and Clinical Sciences K1 Ophthalmology and Optometry K1 Rare Diseases K1 Brain Disorders K1 Clinical Research K1 Pediatric K1 Adolescent K1 Adult K1 Child K1 Preschool K1 Connective Tissue Diseases K1 Dermis K1 Ehlers-Danlos Syndrome K1 Female K1 Fibroblasts K1 Fluorescent Antibody Technique K1 Indirect K1 Humans K1 Infant K1 Male K1 Middle Aged K1 Mutation K1 Sulfotransferases K1 Young Adult K1 dermatan sulfate K1 deficiency K1 dermatan sulfate epimerase K1 N-acetylgalactosamine 4-O-sulfotransferase K1 connective tissue K1 adducted thumb K1 clubfoot K1 proteoglycan K1 arthrogryposis K1 myopathy K1 Genetics K1 Clinical Sciences JF qt61r2r3nn LK http://dx.doi.org/https://escholarship.org/uc/item/61r2r3nn DO https://escholarship.org/uc/item/61r2r3nn SF ELIB - SuUB Bremen
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