Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan.
Pakeeza A
PA
Shaiq
Alfred
A
Klausegger
Fawad
F
Muzaffar
Johann W
JW
Bauer
Muhammad I
MI
Khan
Azra
A
Khanum
Raheel
R
Qamar
Ghazala K
GK
Raja
D001768:Blister / Q000235:genetics* / Q000473:pathology; D018389:Codon, Nonsense; D003241:Consanguinity; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D005006:Ethnicity / Q000235:genetics; D005260:Female; D018703:Founder Effect; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009363:Neoplasm Proteins / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D010510:Periodontal Diseases / Q000235:genetics* / Q000473:pathology; D010787:Photosensitivity Disorders / Q000235:genetics* / Q000473:pathology
D018389:Codon, Nonsense; C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins