Forty-five years to diagnosis

Jeanette Erdmann; Heribert Schunkert

doi:10.1016/j.nmd.2013.03.006

Forty-five years to diagnosis

Jeanette Erdmann^*, Heribert Schunkert

^*Korrespondierende/r Autor/-in für diese Arbeit

7 Zitate (Scopus)

Abstract

A long lasting journey of almost 45 years led in the end to a diagnosis of a Collagen 6A myopathy. Modern information technology and next generation sequencing made the difference - a very personal report.

Originalsprache	Englisch
Zeitschrift	Neuromuscular Disorders
Jahrgang	23
Ausgabenummer	6
Seiten (von - bis)	503-505
Seitenumfang	3
ISSN	0960-8966
DOIs	https://doi.org/10.1016/j.nmd.2013.03.006
Publikationsstatus	Veröffentlicht - 01.06.2013

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen
SDG 5 – Gender Equality

Dokumente

10.1016/j.nmd.2013.03.006

Weitere Links

Link to publication in Scopus

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