Identification of CANT1 mutations in Desbuquois dysplasia

Authors :: Huber, Celine
Oules, Bendicte
Bertoli, Marta
Munnich, Arnold
Cormier-Daire, Valerie
Chami, Mounia
Fradin, Melanie
Alanay, Yasemin
Al-Gazali, Lihadh I.
Ausems, Margreet G.E.M.
Bitoun, Pierre
Cavalcanti, Denise P.
Krebs, Alexander
Le Merrer, Martine
Mortier, Geert
Shafeghati, Yousef
Superti-Furga, Andrea
Robertson, Stephen P.
Le Goff, Carine
Muda, Andrea Onetti
Paterlini-Brechot, Patrizia
Source :: American Journal of Human Genetics. Nov 13, 2009, Vol. 85 Issue 5, p706, 5 p.
Publication Year :: 2009
Abstract: The article explains the different mutations taking place in the Calcium-Activated Nucleotidase-1 (CANT-1) gene, which are shown to lead to Desbuquois dysplasia. The various symptoms, causes and the effects of the disorder on humans are also explained.

Subjects :: Dwarfism -- Genetic aspects
Gene mutations -- Analysis
Human genome -- Research
Nucleotides -- Research
Biological sciences

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