𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Threat bias in mice with inactivating mutations of Prkar1a

✍ Scribed by Keil, M.F.; Briassoulis, G.; Nesterova, M.; Miraftab, N.; Gokarn, N.; Wu, T.J.; Stratakis, C.A.


Book ID
122494579
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
437 KB
Volume
241
Category
Article
ISSN
0306-4522

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutations and polymorphisms in the gene
✍ AnΓ©lia Horvath; JΓ©rΓ΄me Bertherat; Lionel Groussin; Marine Guillaud-Bataille; Kit πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 310 KB πŸ‘ 1 views

PRKAR1A encodes the regulatory subunit type 1-alpha (RIalpha) of the cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA). Inactivating PRKAR1A mutations are known to be responsible for the multiple neoplasia and lentiginosis syndrome Carney complex (CNC). To date, at least 117 patho

Novel inactivating mutations of FANCC in
✍ Jane Yates; Winifred Keeble; Gerard Pals; Najim Ameziane; Rosalina van Spaendonk πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 217 KB

We have identified three novel FANCC mutations, a truncating single base insertion in exon 4 (c.455\_456dupA), a point mutation in exon 13 (c.1390C>T), and a splice site mutation leading to deletion of exon 9, in two Brazilian FA-C patients, each a compound heterozygote. Using complementation analys

Two independent RB1-inactivating mutatio
✍ Javier Alonso; Ibis MenΓ©ndez; AndrΓ©s LΓ³pez; Helena Frayle; Nora RuisΓ‘nchez; Ánge πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 216 KB

## Abstract We report the presence of a hemizygous inactivating germ‐line __RB1__ mutation (a recurrent g.78250Cβ†’T transition, resulting in a stop codon in exon 17) in peripheral blood DNA from a patient with hereditary bilateral retinoblastoma. Hemizygosity was established by sequencing that showe