𝔖 Bobbio Scriptorium
✦   LIBER   ✦

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population

✍ Scribed by P. J. Saker; A. T. Hattersley; B. Barrow; M. S. Hammersley; J.-A. McLellan; Y.-M. D. Lo; R. J. Olds; M. D. Gillmer; R. R. Holman; R. C. Turner

Publisher
Springer
Year
1996
Tongue
English
Weight
168 KB
Volume
39
Category
Article
ISSN
0012-186X

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Familial neonatal Marfan syndrome due to
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
✍ Mustafa Tekin; Filiz Başak Cengiz; Eda Ayberkin; TanΔ±l Kendirli; Suat Fitoz; Erc πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 209 KB πŸ‘ 2 views

## Abstract We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficien

Is the c.3G>C mutation in the succinate
Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?
✍ Yang Zha; Xing-ming Chen; Ching-wan Lam; Soo-chin Lee; Sui-fan Tong; Zhi-qiang G πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 477 KB

## Abstract ## Objectives/Hypothesis: Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (__SDHD__) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It