TY  - GEN
AU  - Alanay,Yasemin
AU  - Avaygan,Hrispima
AU  - Camacho,Natalia
AU  - Utine,G Eda
AU  - Boduroglu,Koray
AU  - Aktas,Dilek
AU  - Alikasifoglu,Mehmet
AU  - Tuncbilek,Ergul
AU  - Orhan,Diclehan
AU  - Bakar,Filiz Tiker
AU  - Zabel,Bernard
AU  - Superti-Furga,Andrea
AU  - Bruckner-Tuderman,Leena
AU  - Curry,Cindy J R
AU  - Pyott,Shawna
AU  - Byers,Peter H
AU  - Eyre,David R
AU  - Baldridge,Dustin
AU  - Lee,Brendan
AU  - Merrill,Amy E
AU  - Davis,Elaine C
AU  - Cohn,Daniel H
AU  - Akarsu,Nurten
AU  - Krakow,Deborah
TI  - Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
SN  - 1537-6605
PY  - 2010///0422
KW  - Adolescent
KW  - Case-Control Studies
KW  - Child
KW  - Cohort Studies
KW  - Collagen Type I
KW  - genetics
KW  - Female
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Osteogenesis Imperfecta
KW  - Pedigree
KW  - Phenotype
KW  - Skin
KW  - pathology
KW  - Tacrolimus Binding Proteins
N1  - Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2010.02.022
ER  -