Five patients with disorders of calcium metabolism presented with GCM2 gene variants
Five patients with disorders of calcium metabolism presented with GCM2 gene variants
About this item
Full title
Author / Creator
García-Castaño, Alejandro , Madariaga, Leire , Gómez-Conde, Sara , Cordo, Carmen Lourdes Rey , López-Iglesias, María , Garcia-Fernández, Yolanda , Martín, Alicia , González, Pedro , Goicolea, Ignacio , de Nanclares, Gustavo Pérez , De la Hoz, Ana Belén , Aguayo, Aníbal , de LaPiscina, Idoia Martínez , Martínez, Rosa , Saso, Laura , Urrutia, Inés , Velasco, Olaia , Castaño, Luis and Gaztambide, Sonia
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The
GCM2
gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder of calcium metabolism were screened for mutations by Next-Generation Sequencing (NGS). A targeted panel...
Alternative Titles
Full title
Five patients with disorders of calcium metabolism presented with GCM2 gene variants
Authors, Artists and Contributors
Author / Creator
Madariaga, Leire
Gómez-Conde, Sara
Cordo, Carmen Lourdes Rey
López-Iglesias, María
Garcia-Fernández, Yolanda
Martín, Alicia
González, Pedro
Goicolea, Ignacio
de Nanclares, Gustavo Pérez
De la Hoz, Ana Belén
Aguayo, Aníbal
de LaPiscina, Idoia Martínez
Martínez, Rosa
Saso, Laura
Urrutia, Inés
Velasco, Olaia
Castaño, Luis
Gaztambide, Sonia
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_21ec769fee1348db929c1757673e7caa
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_21ec769fee1348db929c1757673e7caa
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-021-82661-y
