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 45 条

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[7] A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency
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[J]. ENDOCRINE, 2009, 36 (01) : 83 - 86
[8] Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide
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[9] AN INHERITED NON-AMYLOIDOGENIC TRANSTHYRETIN VARIANT, [SER6]-TTR, WITH INCREASED THYROXINE-BINDING AFFINITY, CHARACTERIZED BY DNA SEQUENCING
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[J]. JOURNAL OF ENDOCRINOLOGY, 1991, 129 (02) : 309 - 313
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (20) : 7708 - 7712

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