A novel mutation in the FERMT1 gene in a Spanish family with Kindler's syndrome.
Mas-Vidal
A
A
Miñones-Suárez
L
L
Toral
J F
JF
Mallo
S
S
Pérez-Oliva
N
N
D001768:Blister / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D010510:Periodontal Diseases / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D010787:Photosensitivity Disorders / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D013030:Spain
C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins