PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

A. J. Kämpe, A. Costantini, R. E. Makitie, N. Jäntti, H. Valta, M. Mäyränpää, H. Kröger, M. Pekkinen, F. Taylan, H. Jiao, O. Mäkitie

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftOsteoporosis International
Volym28
Utgåva10
Sidor (från-till)3023-3032
Antal sidor10
ISSN0937-941X
DOI
StatusPublicerad - okt 2017
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3121 Inre medicin

Citera det här

Kämpe, A. J. ; Costantini, A. ; Makitie, R. E. ; Jäntti, N. ; Valta, H. ; Mäyränpää, M. ; Kröger, H. ; Pekkinen, M. ; Taylan, F. ; Jiao, H. ; Mäkitie, O. / PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants. I: Osteoporosis International. 2017 ; Vol. 28, Nr. 10. s. 3023-3032.
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title = "PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants",
keywords = "Children, Early-onset osteoporosis, Fractures, Osteogenesis imperfecta, Plastin 3, X-Linked osteoporosis, OSTEOGENESIS IMPERFECTA, PLASTIN 3, MUTATIONS, CHILDREN, MOTONEURONS, FRACTURES, DIAGNOSIS, 3121 Internal medicine",
author = "K{\"a}mpe, {A. J.} and A. Costantini and Makitie, {R. E.} and N. J{\"a}ntti and H. Valta and M. M{\"a}yr{\"a}np{\"a}{\"a} and H. Kr{\"o}ger and M. Pekkinen and F. Taylan and H. Jiao and O. M{\"a}kitie",
year = "2017",
month = "10",
doi = "10.1007/s00198-017-4150-9",
language = "English",
volume = "28",
pages = "3023--3032",
journal = "Osteoporosis International",
issn = "0937-941X",
publisher = "SPRINGER LONDON LTD",
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}

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants. / Kämpe, A. J.; Costantini, A.; Makitie, R. E.; Jäntti, N.; Valta, H.; Mäyränpää, M.; Kröger, H.; Pekkinen, M.; Taylan, F.; Jiao, H.; Mäkitie, O.

I: Osteoporosis International, Vol. 28, Nr. 10, 10.2017, s. 3023-3032.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

AU - Kämpe, A. J.

AU - Costantini, A.

AU - Makitie, R. E.

AU - Jäntti, N.

AU - Valta, H.

AU - Mäyränpää, M.

AU - Kröger, H.

AU - Pekkinen, M.

AU - Taylan, F.

AU - Jiao, H.

AU - Mäkitie, O.

PY - 2017/10

Y1 - 2017/10

KW - Children

KW - Early-onset osteoporosis

KW - Fractures

KW - Osteogenesis imperfecta

KW - Plastin 3

KW - X-Linked osteoporosis

KW - OSTEOGENESIS IMPERFECTA

KW - PLASTIN 3

KW - MUTATIONS

KW - CHILDREN

KW - MOTONEURONS

KW - FRACTURES

KW - DIAGNOSIS

KW - 3121 Internal medicine

U2 - 10.1007/s00198-017-4150-9

DO - 10.1007/s00198-017-4150-9

M3 - Article

VL - 28

SP - 3023

EP - 3032

JO - Osteoporosis International

JF - Osteoporosis International

SN - 0937-941X

IS - 10

ER -