TY  - GEN
AU  - Horev,L
AU  - Waran Lalin,T
AU  - Martinez-Mir,A
AU  - Bagheri,B A
AU  - Tadin-Strapps,M
AU  - Schneiderman,P I
AU  - Grossman,M E
AU  - Bickers,D R
AU  - Christiano,A M
TI  - Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency
SN  - 0307-6938
PY  - 2003///0425
KW  - Adult
KW  - Aortic Valve Insufficiency
KW  - genetics
KW  - Collagen Type VII
KW  - Epidermolysis Bullosa Dystrophica
KW  - Genes, Recessive
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1046/j.1365-2230.2003.01190.x
ER  -