Clinical utility gene card for: Maturity-onset diabetes of the young-Reference-Cited by-同舟云学术

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Clinical utility gene card for: Maturity-onset diabetes of the young

Published:2014-02-12 Issue:9 Volume:22 Page:1153-1153
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Colclough Kevin,Saint-Martin Cécile,Timsit José,Ellard Sian,Bellanné-Chantelot Christine

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201414.pdf

Reference40 articles.

1. Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S : Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat 2013; 34: 669–685.

2. Osbak KK, Colclough K, Saint-Martin C et al: Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat 2009; 30: 1512–1526.

3. Carette C, Dubois-Laforgue D, Saint-Martin C et al: Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies. Diabet Med 2010; 27: 1454–1458.

4. Ellard S, Thomas K, Edghill EL et al: Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia 2007; 50: 2313–2317.

5. Dusatkova P, Pruhova S, Borowiec M et al: Ancestral mutations may cause a significant proportion of GCK-MODY. Pediatr Diabetes 2012; 13: 489–498.

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2. Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young;International Journal of Molecular Sciences;2022-10-26

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