Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene

Detalles Bibliográficos
Autores principales: Hasegawa, Kosei, Higuchi, Yosuke, Yamashita, Miho, Tanaka, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2015
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322291/
https://www.ncbi.nlm.nih.gov/pubmed/25678758
http://dx.doi.org/10.1297/cpe.24.33
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author Hasegawa, Kosei
Higuchi, Yosuke
Yamashita, Miho
Tanaka, Hiroyuki
author_facet Hasegawa, Kosei
Higuchi, Yosuke
Yamashita, Miho
Tanaka, Hiroyuki
author_sort Hasegawa, Kosei
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spelling pubmed-43222912015-02-12 Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene Hasegawa, Kosei Higuchi, Yosuke Yamashita, Miho Tanaka, Hiroyuki Clin Pediatr Endocrinol Mutation-in-Brief The Japanese Society for Pediatric Endocrinology 2015-02-10 2015-01 /pmc/articles/PMC4322291/ /pubmed/25678758 http://dx.doi.org/10.1297/cpe.24.33 Text en 2015©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Mutation-in-Brief
Hasegawa, Kosei
Higuchi, Yosuke
Yamashita, Miho
Tanaka, Hiroyuki
Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
title Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
title_full Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
title_fullStr Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
title_full_unstemmed Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
title_short Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
title_sort japanese familial case with metaphyseal dysplasia, schmid type caused by the p.t555p mutation in the col10a1 gene
topic Mutation-in-Brief
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322291/
https://www.ncbi.nlm.nih.gov/pubmed/25678758
http://dx.doi.org/10.1297/cpe.24.33
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