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Katja Kloth, Matthis Synofzik, Christoph Kernstock et al.

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Published in: BMC medical genetics 20, 1, 8.4.2019, date:12.2019

Title

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Involved 
Katja Kloth (Verfasser)
Matthis Synofzik (Verfasser)
Christoph Kernstock (Verfasser)
Simone Schimpf-Linzenbold (Verfasser)
Frank Schuettauf (Verfasser)
Axel Neu (Verfasser)
Bernd Wissinger (Verfasser)
Nicole Weisschuh (Verfasser)
SpringerLink (Online service) (Sonstige)

Published in

BMC medical genetics 20, 1, 8.4.2019, date:12.2019, Seite 1-10

Published

2019

Language

Englisch

Country

Großbritannien

Topic

Medizin, Gesundheit

Subject

Human Genetics.
Cytogenetics.
Gene Function.

DDC notation

617.7

Persistent identifier

urn:nbn:de:101:1-2019042723585461928005 (URN)
10.1186/s12881-019-0795-x (DOI)

Record ID

1184722927
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