Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation

被引：7

作者：

Angel Alcantara-Ortigoza, Miguel ^{[1
]}

Gonzalez-del Angel, Ariadna ^{[1
]}

Martinez-Cruz, Victor ^{[1
]}

Vela-Amieva, Marcela ^{[2
]}

Sanchez-Perez, Carmen ^{[3
]}

Moreno-Rojas, Rosario ^{[3
]}

Estandia-Ortega, Bernardette ^{[1
]}

Hernandez-Martinez, Nancy ^{[1
]}

机构：

[1] Inst Nacl Pediat, Lab Biol Mol, Dept Genet Humana, Mexico City, DF, Mexico

[2] Inst Nacl Pediat, Lab Errores Innatos Metab & Tamiz, Mexico City, DF, Mexico

[3] Inst Nacl Pediat, Lab Seguirniento Neurodesarrollo, Mexico City, DF, Mexico

来源：

CLINICAL ENDOCRINOLOGY | 2012年 / 76卷 / 01期

关键词：

D O I：

10.1111/j.1365-2265.2011.04153.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：148 / 150

页数：3

共 5 条

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Di Lauro, R .

NATURE GENETICS, 1998, 19 (01) :83-86

[4] Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations [J].

Montanelli, Lucia ;

Tonacchera, Massimo .

MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2010, 322 (1-2) :64-71

[5]

Vela-Amieva M, 2004, SALUD PUBLICA MEXICO, V46, P141

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