A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.
Baudoin
C
C
U385 INSERM, Faculté de Médecine, Nice, France.
Miquel
C
C
Gagnoux-Palacios
L
L
Pulkkinen
L
L
Christiano
A M
AM
Uitto
J
J
Tadini
G
G
Ortonne
J P
JP
Meneguzzi
G
G
D000028:Abortion, Induced; D001483:Base Sequence; D001706:Biopsy; D003241:Consanguinity; D017931:DNA Primers; D016109:Epidermolysis Bullosa, Junctional / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D005333:Fetus; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns; D007797:Laminin / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012867:Skin / Q000473:pathology
D017931:DNA Primers; D007797:Laminin