1Fine JD,Bauer EA,Briggaman RA,et al.Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa[J].J Am Acad Dermatol,1991,24(1):119-35.
2Bart BJ,Gorlin RJ,Anderson VE,et al.Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa[J].A new syndrome.Arch Dermatol,1966,93(3):296-304.
3Hashimoto K,Matsumoto M,Iacobelli D.Transient bullous dermolysis of the newborn[J].Arch Dermatol,1985,121(11):1429-38.
4McGrath JA,Kivirikko S,Ciatti S,et al.A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry:evidence for a founder effect[J].J Invest Dermatol,1996,106(4):781-4.
7Ryynanen M,Knowlton RG,Parente MG,et al.Human type VII collagen:genetic linkage of the gene(COL7A1)on chromosome 3 to dominant dystrophic epidermolysis bullosa[J].Am J Hum Genet,1991,49(4):797-803.
8Mellerio JE,Salas-Alanis JC,Talamantes ML,et al.A recurrent glycine substitution mutation,G2043R,in the type VII collagen gene(COL7A1)in dominant dystrophic epidermolysis bullosa[J].Br J Dermatol,1998,139(4):730-7.
9Rouan F,Pulkkinen L,Jonkman MF,et al.Novel and de novo glycine substitution mutations in the type VII collagen gene(COL7A1)in dystrophic epidermolysis bullosa:implications for genetic counseling[J].J Invest Dermatol,1998,111(6):1210-3.
10Hammami-Hauasli N,Schumann H,Raghunath M,et al.Some,but not all,glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII,loss of anchoring fibrils,and skin blistering[J].J Biol Chem,1998,273(30):19228-34.
