Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

Yasemin Alanay; Hrispima Avaygan; Natalia Camacho; G. Eda Utine; Koray Boduroglu; Dilek Aktas; Mehmet Alikasifoglu; Ergul Tuncbilek; Diclehan Orhan; Filiz Tiker Bakar; Bernard Zabel; Andrea Superti-Furga; Leena Bruckner-Tuderman; Cindy J.R. Curry; Shawna Pyott; Peter H. Byers; David R. Eyre; Dustin Baldridge; Brendan Lee; Amy E. Merrill; Elaine C. Davis; Daniel H. Cohn; Nurten Akarsu; Deborah Krakow

doi:10.1016/j.ajhg.2010.09.002

Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, G. Eda Utine, Koray Boduroglu, Dilek Aktas, Mehmet Alikasifoglu, Ergul Tuncbilek, Diclehan Orhan, Filiz Tiker Bakar, Bernard Zabel, Andrea Superti-Furga, Leena Bruckner-Tuderman, Cindy J.R. Curry, Shawna Pyott, Peter H. Byers, David R. Eyre, Dustin Baldridge, Brendan Lee, Amy E. MerrillElaine C. Davis, Daniel H. Cohn, Nurten Akarsu, Deborah Krakow

Research output: Contribution to journal › Comment/debate

11 Scopus citations

Original language	English
Pages (from-to)	572-573
Number of pages	2
Journal	American journal of human genetics
Volume	87
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2010.09.002
State	Published - Oct 8 2010

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10.1016/j.ajhg.2010.09.002

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Alanay, Y., Avaygan, H., Camacho, N., Utine, G. E., Boduroglu, K., Aktas, D., Alikasifoglu, M., Tuncbilek, E., Orhan, D., Bakar, F. T., Zabel, B., Superti-Furga, A., Bruckner-Tuderman, L., Curry, C. J. R., Pyott, S., Byers, P. H., Eyre, D. R., Baldridge, D., Lee, B., ... Krakow, D. (2010). Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. American journal of human genetics, 87(4), 572-573. https://doi.org/10.1016/j.ajhg.2010.09.002

Alanay, Yasemin ; Avaygan, Hrispima ; Camacho, Natalia ; Utine, G. Eda ; Boduroglu, Koray ; Aktas, Dilek ; Alikasifoglu, Mehmet ; Tuncbilek, Ergul ; Orhan, Diclehan ; Bakar, Filiz Tiker ; Zabel, Bernard ; Superti-Furga, Andrea ; Bruckner-Tuderman, Leena ; Curry, Cindy J.R. ; Pyott, Shawna ; Byers, Peter H. ; Eyre, David R. ; Baldridge, Dustin ; Lee, Brendan ; Merrill, Amy E. ; Davis, Elaine C. ; Cohn, Daniel H. ; Akarsu, Nurten ; Krakow, Deborah. / Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. In: American journal of human genetics. 2010 ; Vol. 87, No. 4. pp. 572-573.

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title = "Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta",

author = "Yasemin Alanay and Hrispima Avaygan and Natalia Camacho and Utine, {G. Eda} and Koray Boduroglu and Dilek Aktas and Mehmet Alikasifoglu and Ergul Tuncbilek and Diclehan Orhan and Bakar, {Filiz Tiker} and Bernard Zabel and Andrea Superti-Furga and Leena Bruckner-Tuderman and Curry, {Cindy J.R.} and Shawna Pyott and Byers, {Peter H.} and Eyre, {David R.} and Dustin Baldridge and Brendan Lee and Merrill, {Amy E.} and Davis, {Elaine C.} and Cohn, {Daniel H.} and Nurten Akarsu and Deborah Krakow",

year = "2010",

month = oct,

day = "8",

doi = "10.1016/j.ajhg.2010.09.002",

language = "English",

volume = "87",

pages = "572--573",

journal = "American Journal of Human Genetics",

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Alanay, Y, Avaygan, H, Camacho, N, Utine, GE, Boduroglu, K, Aktas, D, Alikasifoglu, M, Tuncbilek, E, Orhan, D, Bakar, FT, Zabel, B, Superti-Furga, A, Bruckner-Tuderman, L, Curry, CJR, Pyott, S, Byers, PH, Eyre, DR, Baldridge, D, Lee, B, Merrill, AE, Davis, EC, Cohn, DH, Akarsu, N & Krakow, D 2010, 'Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta', American journal of human genetics, vol. 87, no. 4, pp. 572-573. https://doi.org/10.1016/j.ajhg.2010.09.002

Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. / Alanay, Yasemin; Avaygan, Hrispima; Camacho, Natalia; Utine, G. Eda; Boduroglu, Koray; Aktas, Dilek; Alikasifoglu, Mehmet; Tuncbilek, Ergul; Orhan, Diclehan; Bakar, Filiz Tiker; Zabel, Bernard; Superti-Furga, Andrea; Bruckner-Tuderman, Leena; Curry, Cindy J.R.; Pyott, Shawna; Byers, Peter H.; Eyre, David R.; Baldridge, Dustin; Lee, Brendan; Merrill, Amy E.; Davis, Elaine C.; Cohn, Daniel H.; Akarsu, Nurten; Krakow, Deborah.

In: American journal of human genetics, Vol. 87, No. 4, 08.10.2010, p. 572-573.

Research output: Contribution to journal › Comment/debate

TY - JOUR

T1 - Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

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

PY - 2010/10/8

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U2 - 10.1016/j.ajhg.2010.09.002

DO - 10.1016/j.ajhg.2010.09.002

M3 - Comment/debate

AN - SCOPUS:77957727477

VL - 87

SP - 572

EP - 573

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 4

ER -

Mutations in the Gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

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