Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

BACKGROUND: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics. METHODS: Seven exons and exon/intron boundaries of CTSK...

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Detalhes bibliográficos
Main Authors: Arman, Ahmet, Bereket, Abdullah, Coker, Ajda, Kiper, Pelin Özlem Şimşek, Güran, Tülay, Özkan, Behzat, Atay, Zeynep, Akçay, Teoman, Haliloglu, Belma, Boduroglu, Koray, Alanay, Yasemin, Turan, Serap
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4022088/
https://ncbi.nlm.nih.gov/pubmed/24767306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-60
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