scholarly journals Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion

2009 ◽  
Vol 55 (1) ◽  
pp. 4-7 ◽  
Author(s):  
Hiroko Arai ◽  
Tesshu Otagiri ◽  
Ayako Sasaki ◽  
Kazuo Umetsu ◽  
Kiyoshi Hayasaka
Keyword(s):  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Polyalanine Expansion ◽  
Hypoventilation Syndrome

scholarly journals Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

2003 ◽  
Vol 33 (4) ◽  
pp. 459-461 ◽  
Author(s):  
Jeanne Amiel ◽  
Béatrice Laudier ◽  
Tania Attié-Bitach ◽  
Ha Trang ◽  
Loïc de Pontual ◽  
...  
Keyword(s):  
Homeobox Gene ◽  
Congenital Central Hypoventilation Syndrome ◽  
Frameshift Mutations ◽  
Central Hypoventilation ◽  
Polyalanine Expansion ◽  
Hypoventilation Syndrome

scholarly journals Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome

2012 ◽  
Vol 57 (5) ◽  
pp. 335-337 ◽  
Author(s):  
Toru Meguro ◽  
Yuki Yoshida ◽  
Makiko Hayashi ◽  
Kentaro Toyota ◽  
Tesshu Otagiri ◽  
...  
Keyword(s):  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Polyalanine Expansion ◽  
Hypoventilation Syndrome ◽  
Expansion Mutation

scholarly journals Genetic mutation in Hirschsprungs/congenital central hypoventilation syndrome

2021 ◽  
Vol 69 ◽  
pp. 101861
Author(s):  
Christina Schreiner ◽  
Elisabeth Ralser ◽  
Christine Fauth ◽  
Ursula Kiechl-Kohlendorfer ◽  
Elke Griesmaier
Keyword(s):  
Genetic Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome
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