Novel Mutation p.A64D in the Serpina7 Gene as a Cause of Partial Thyroxine-binding Globulin Deficiency Associated with Increases Affinity in Transthyretin by a Known p.A109T Mutation in the TTR Gene

被引：0

作者：

Sklate, R. T. ^{[1
]}

Olcese, M. C. ^{[2
,3
]}

Maccallini, G. C. ^{[4
]}

Sarmiento, R. G. ^{[5
,6
]}

Targovnik, H. M. ^{[2
,3
]}

Rivolta, C. M. ^{[2
,3
]}

机构：

[1] Hosp Gen Agudos Dr Enrique Tornu, Serv Endocrinol, Dept Med, Buenos Aires, DF, Argentina

[2] Hosp Clin Jose San Martin, CONICET UBA, Inst Inmunol Genet Metab INIGEM, Lab Genet & Biol Mol, Buenos Aires, DF, Argentina

[3] Univ Buenos Aires, Fac Farm & Bioquim, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, Argentina

[4] Hosp Gen Agudos Dr Carlos G Durand, Div Lab, Buenos Aires, DF, Argentina

[5] Univ Salamanca, Dept Med, IBMCC, Unidad Med Mol,CSIC, E-37008 Salamanca, Spain

[6] Univ Salamanca, IBSAL, CSIC, E-37008 Salamanca, Spain

来源：

HORMONE AND METABOLIC RESEARCH | 2014年 / 46卷 / 02期

关键词：

COMPLETE TBG DEFICIENCY; 2 NUCLEOTIDE SUBSTITUTIONS; JAPANESE FAMILIES; AUSTRALIAN ABORIGINES; SAN-DIEGO; VARIANT; SEQUENCE; DELETION; PREALBUMIN; HYPERTHYROXINEMIA;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：100 / 108

页数：9

共 9 条

[1] A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency
Rita Domingues
Paula Font
Luís Sobrinho
Maria João Bugalho
Endocrine, 2009, 36 : 83 - 86
[2] A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency
Domingues, Rita
Font, Paula
Sobrinho, Luis
Bugalho, Maria Joao
ENDOCRINE, 2009, 36 (01) : 83 - 86
[3] Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency
Fang, Yanlan
Chen, Hong
Chen, Qingqing
Wang, Chunlin
Liang, Li
MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (02):
[4] First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7
Soheilipour, Fahimeh
Fazilaty, Hassan
Jesmi, Fatemeh
Gahl, William A.
Behnam, Babak
MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 8 : 13 - 16
[5] Two Novel Mutations in the Serpina7 Gene Are Associated with Complete Deficiency of Thyroxine- Binding Globulin
Moeller, Lars C.
Appiagyei-Dankah, Yaw
Koehler, Birgit
Biebermann, Heike
Janssen, Onno E.
Fuehrer, Dagmar
EUROPEAN THYROID JOURNAL, 2015, 4 : 108 - 112
[6] A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families
Pappa, Theodora
Moeller, Lars C.
Edidin, Deborah V.
Pannain, Silvana
Refetoff, Samuel
EUROPEAN THYROID JOURNAL, 2017, 6 (03) : 138 - 142
[7] Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling
Gomes-Lima, Cristiane Jeyce
Faraj Linhares Maciel, Andressa Aby
Andrade, Matheus de Oliveira
da Cunha, Vinicius Santos
Mazzeu, Juliana Forte
Bleicher, Lucas
Rocha Neves, Francisco de Assis
Lofrano-Porto, Adriana
GENE, 2018, 666 : 58 - 63
[8] Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function
Gawandi, S.
Jothivel, K.
Kulkarni, S.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2022, 45 (04) : 731 - 739
[9] Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function
S. Gawandi
K. Jothivel
S. Kulkarni
Journal of Endocrinological Investigation, 2022, 45 : 731 - 739

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