TY  - GEN
AU  - Goudie,David R
AU  - D'Alessandro,Mariella
AU  - Merriman,Barry
AU  - Lee,Hane
AU  - Szeverényi,Ildikó
AU  - Avery,Stuart
AU  - O'Connor,Brian D
AU  - Nelson,Stanley F
AU  - Coats,Stephanie E
AU  - Stewart,Arlene
AU  - Christie,Lesley
AU  - Pichert,Gabriella
AU  - Friedel,Jean
AU  - Hayes,Ian
AU  - Burrows,Nigel
AU  - Whittaker,Sean
AU  - Gerdes,Anne-Marie
AU  - Broesby-Olsen,Sigurd
AU  - Ferguson-Smith,Malcolm A
AU  - Verma,Chandra
AU  - Lunny,Declan P
AU  - Reversade,Bruno
AU  - Lane,E Birgitte
TI  - Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
SN  - 1546-1718
PY  - 2011///0509
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Carcinoma
KW  - genetics
KW  - Codon, Nonsense
KW  - Conserved Sequence
KW  - DNA Primers
KW  - Female
KW  - Frameshift Mutation
KW  - Genetic Association Studies
KW  - Haplotypes
KW  - Humans
KW  - Keratoacanthoma
KW  - Male
KW  - Marfan Syndrome
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutant Proteins
KW  - chemistry
KW  - Mutation
KW  - Mutation, Missense
KW  - Protein Serine-Threonine Kinases
KW  - Protein Structure, Tertiary
KW  - Receptor, Transforming Growth Factor-beta Type I
KW  - Receptors, Transforming Growth Factor beta
KW  - Sequence Homology, Amino Acid
KW  - Skin Neoplasms
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng.780
ER  -