Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling

Author:

Gomes-Lima Cristiane Jeyce,Maciel Andressa Aby Faraj Linhares,Andrade Matheus de Oliveira,Cunha Vinicius Santos da,Mazzeu Juliana Forte,Bleicher Lucas,Neves Francisco de Assis Rocha,Lofrano-Porto Adriana

Funder

CNPq

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference31 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am. J. Hum. Genet.,1992

2. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females;Amos-Landgraf;Am. J. Hum. Genet.,2006

3. Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions;Bertenshaw;Biochim. Biophys. Acta,1992

4. Comparison of X-chromosome inactivation patterns in multiple tissues from human females;Bittel;J. Med. Genet.,2008

5. Using amino acid correlation and community detection algorithms to identify functional determinants in protein families;Bleicher;PLoS One,2011

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