A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome.
Kaçar
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N
Semerci
N
N
Ergin
S
S
Pascucci
M
M
Zambruno
G
G
Castiglia
D
D
D000293:Adolescent; D001768:Blister / Q000151:congenital / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000151:congenital / Q000235:genetics*; D035781:Siblings; D012873:Skin Diseases, Genetic / Q000175:diagnosis*; D013577:Syndrome; D014421:Turkey
C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins