Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
GIEHL, Kathrin A, ECKSTEIN, Gertrud N, BRAUN-FALCO, Markus, BETZ, Regina C, STROM, Tim M, PASTERNACK, Sandra M, PRAETZEL-WUNDER, Silke, RUZICKA, Thomas, LICHTNER, Peter, SEIDL, Kerstin, ROGERS, Mike, GRAF, Elisabeth, LANGBEIN, Lutz
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability
Giehl, Kathrin A, Herzinger, Thomas, Wolff, Hans, Sárdy, Miklós, von Braunmühl, Tanja, Dekeuleneer, Valérie, Sznajer, Yves, Tennstedt, Dominique, Boes, Pascaline, Rapprich, Stefan, Wagner, Nicola, Betz, Regina C, Braun-Falco, Markus, Strom, Tim, Ruzicka, Thomas, Eckstein, Gertrud N
Published in Acta dermato-venereologica (01.01.2016)
Published in Acta dermato-venereologica (01.01.2016)
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A Gene Locus Responsible for the Familial Hair Shaft Abnormality Pili Annulati Maps to Chromosome 12q24.32–24.33
Giehl, Kathrin A., Eckstein, Gertrud N., Benet-Pagès, Anna, Tosti, Antonella, de Berker, David A.R., Meitinger, Thomas, Müller-Myhsok, Bertram, Strom, Tim M.
Published in Journal of investigative dermatology (01.12.2004)
Published in Journal of investigative dermatology (01.12.2004)
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