A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

Detalles Bibliográficos
Autores principales: Nakamura, Akie, Hostubo, Tomoyuki, Jo, Wakako, Ishizu, Katsura, Tajima, Toshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2011
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687632/
https://www.ncbi.nlm.nih.gov/pubmed/23926390
http://dx.doi.org/10.1297/cpe.20.21
_version_ 1782273962584047616
author Nakamura, Akie
Hostubo, Tomoyuki
Jo, Wakako
Ishizu, Katsura
Tajima, Toshihiro
author_facet Nakamura, Akie
Hostubo, Tomoyuki
Jo, Wakako
Ishizu, Katsura
Tajima, Toshihiro
author_sort Nakamura, Akie
collection PubMed
description
format Online
Article
Text
id pubmed-3687632
institution National Center for Biotechnology Information
language English
publishDate 2011
publisher The Japanese Society for Pediatric Endocrinology
record_format MEDLINE/PubMed
spelling pubmed-36876322013-08-07 A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia Nakamura, Akie Hostubo, Tomoyuki Jo, Wakako Ishizu, Katsura Tajima, Toshihiro Clin Pediatr Endocrinol Mutation-in-Brief The Japanese Society for Pediatric Endocrinology 2011-03-26 2011-01 /pmc/articles/PMC3687632/ /pubmed/23926390 http://dx.doi.org/10.1297/cpe.20.21 Text en 2011©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
Nakamura, Akie
Hostubo, Tomoyuki
Jo, Wakako
Ishizu, Katsura
Tajima, Toshihiro
A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
title A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
title_full A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
title_fullStr A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
title_full_unstemmed A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
title_short A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
title_sort novel splicing mutation of the gnas gene in a patient with pseudohypoparathyroidism ia
topic Mutation-in-Brief
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687632/
https://www.ncbi.nlm.nih.gov/pubmed/23926390
http://dx.doi.org/10.1297/cpe.20.21
work_keys_str_mv AT nakamuraakie anovelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT hostubotomoyuki anovelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT jowakako anovelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT ishizukatsura anovelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT tajimatoshihiro anovelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT nakamuraakie novelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT hostubotomoyuki novelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT jowakako novelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT ishizukatsura novelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia
AT tajimatoshihiro novelsplicingmutationofthegnasgeneinapatientwithpseudohypoparathyroidismia

Ejemplares similares