Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
Lai-Cheong
Joey E
JE
Liu
Lu
L
Sethuraman
Gomathy
G
Kumar
Rajesh
R
Sharma
Vinod K
VK
Reddy
Siva R
SR
Vahlquist
Anders
A
Pather
Sandra
S
Arita
Ken
K
Wessagowit
Vesarat
V
McGrath
John A
JA
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000235:genetics* / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome
C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins