Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement.
Mansur
A Tülin
AT
Elcioglu
Nursel H
NH
Aydingöz
Ikbal E
IE
Akkaya
A Deniz
AD
Serdar
Zehra Asiran
ZA
Herz
Corinna
C
Bruckner-Tuderman
Leena
L
Has
Cristina
C
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004935:Esophageal Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005831:Genital Diseases, Female / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009092:Mucous Membrane / Q000473:pathology; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000235:genetics; D016133:Polymerase Chain Reaction; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D012872:Skin Diseases, Vesiculobullous / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins