A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ss-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Bader, Ingrid; Freilinger, M.; Landauer, F.; Waldmueller, S.; Mueller-Felber, W.; Rauscher, C.; Sperl, W.; Bittner, R. E.; Schmidt, W. M.; Mayr, J. A.

dc.contributor.author	Bader, Ingrid
dc.contributor.author	Waldmüller, Stephan
dc.date.accessioned	2022-11-21T10:24:53Z
dc.date.available	2022-11-21T10:24:53Z
dc.date.issued	2022
dc.identifier.issn	1750-1172
dc.identifier.uri	http://hdl.handle.net/10900/133218
dc.language.iso	en	de_DE
dc.publisher	Bmc	de_DE
dc.relation.uri	http://dx.doi.org/10.1186/s13023-022-02421-7	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ss-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_00077
utue.personen.roh	Bader, Ingrid
utue.personen.roh	Freilinger, M.
utue.personen.roh	Landauer, F.
utue.personen.roh	Waldmueller, S.
utue.personen.roh	Mueller-Felber, W.
utue.personen.roh	Rauscher, C.
utue.personen.roh	Sperl, W.
utue.personen.roh	Bittner, R. E.
utue.personen.roh	Schmidt, W. M.
utue.personen.roh	Mayr, J. A.
dcterms.isPartOf.ZSTitelID	Orphanet Journal of Rare Diseases	de_DE
dcterms.isPartOf.ZS-Issue	Article 279	de_DE
dcterms.isPartOf.ZS-Volume	17 (1)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE