Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome

Germline mutations in the tumor‐suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, and autism. Evidence‐based classification of PTEN variants as either deleterious or benign is urgently needed for accurate molecular diagnosis and gene‐informed gene...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Hum Mutat
Hlavní autoři: Chen, Hannah Jinlian, Romigh, Todd, Sesock, Kaitlin, Eng, Charis
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2017
Témata:
Brief Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5599331/
https://ncbi.nlm.nih.gov/pubmed/28677221
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23288
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky