Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

✍ Scribed by Kathrin A. Giehl; Gertrud N. Eckstein; Sandra M. Pasternack; Silke Praetzel-Wunder; Thomas Ruzicka; Peter Lichtner; Kerstin Seidl; Mike Rogers; Elisabeth Graf; Lutz Langbein; Markus Braun-Falco; Regina C. Betz; Tim M. Strom

• Book ID: 119184385
• Publisher: American Society of Human Genetics
• Year: 2012
• Tongue: English
• Weight: 483 KB
• Volume: 91
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2012.08.024