scholarly journals The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism

2015 ◽  
Vol 7 (3) ◽  
pp. 238-241 ◽  
Author(s):  
Hakan Cangül ◽  
Korcan Demir ◽  
H. Ömür Babayiğit ◽  
Ayhan Abacı ◽  
Ece Böber
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene ◽  
Missense Alteration

Thyroid Peroxidase Gene Mutations Causing Congenital Hypothyroidism in Three Turkish Families

2009 ◽  
Vol 22 (11) ◽  
Author(s):  
M.N. Ozbek ◽  
A.B. Uslu ◽  
N. Onenli-Mungan ◽  
B. Yuksel ◽  
J. Pohlenz ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene

Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism

2009 ◽  
Vol 104 (S 04) ◽  
pp. 121-123 ◽  
Author(s):  
A. Grüters ◽  
B. Köhler ◽  
A. Wolf ◽  
A. Söling ◽  
L. de Vijlder ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene ◽  
Human Thyroid Peroxidase

Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism

2020 ◽  
Vol 93 (4) ◽  
pp. 499-507 ◽  
Author(s):  
Defa Zhao ◽  
Yang Li ◽  
Zhongyan Shan ◽  
Weiping Teng ◽  
Jing Li ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene

A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect

2014 ◽  
Vol 27 (3-4) ◽  
Author(s):  
Veysel Nijat Baş ◽  
Zehra Aycan ◽  
Hakan Cangul ◽  
Michaela Kendall ◽  
Sebahat Yılmaz Ağladıoğlu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Hypothyroidism ◽  
Founder Effect ◽  
Thyroid Peroxidase ◽  
Peroxidase Gene ◽  
Turkish Patients
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