相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy
Goenuel Catli et al.
THYROID (2018)
Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency
Jiao Fu et al.
ENDOCRINOLOGY (2017)
Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation
Takashi Hamajima et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)
Selenoprotein-Related Disease in a Young Girl Caused by Nonsense Mutations in the SBP2 Gene
Monalisa Ferreira Azevedo et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
Erik Schoenmakers et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Clinical and Molecular Characterization of a Novel Selenocysteine Insertion Sequence-Binding Protein 2 (SBP2) Gene Mutation (R128X)
Caterina Di Cosmo et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Functional characterization of alternatively spliced human SECISBP2 transcript variants
Laura V. Papp et al.
NUCLEIC ACIDS RESEARCH (2008)
From selenium to selenoproteins: Synthesis, identity, and their role in human health
Laura Vanda Papp et al.
ANTIOXIDANTS & REDOX SIGNALING (2007)
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism
AM Dumitrescu et al.
NATURE GENETICS (2005)