A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype

2014 | conference abstract. A publication with affiliation to the University of Göttingen.

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​A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype​
Lehmann, J.; Schubert, S.; Schaefer, A.; Laspe, P.; Haenssle, H. A.; Ohlenbusch, A. & Gratchev, A. et al.​ (2014)
JDDG Journal der Deutschen Dermatologischen Gesellschaft12 
Hoboken​: Wiley-blackwell.

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Authors
Lehmann, J.; Schubert, S.; Schaefer, A.; Laspe, Petra; Haenssle, Holger Andreas; Ohlenbusch, Andreas; Gratchev, Alexei; Emmert, Steffen
Issue Date
2014
Status
published
Publisher
Wiley-blackwell
Journal
JDDG Journal der Deutschen Dermatologischen Gesellschaft 
ISSN
1610-0387; 1610-0379
Extent
40

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