Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
Wessagowit
Vesarat
V
Kim
Soo-Chan
SC
Woong Oh
Se
S
McGrath
John A
JA
D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics
D024143:Collagen Type VII; D022821:RNA Splice Sites