Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type.
Jiang
W
W
Department of Dermatology, Peking University First Hospital, Beijing 10034, China. ZhuXJ@public.bta.net.cn
Sun
Y
Y
Li
S
S
Chen
X X
XX
Bu
D F
DF
Zhu
X J
XJ
D044466:Asian People; D001483:Base Sequence; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005091:Exons; D019084:Fluorescent Antibody Technique, Indirect; D005528:Foot; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D012867:Skin / Q000648:ultrastructure
D024143:Collagen Type VII