טוען...

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

PURPOSE: Protocadherin-15 (PCDH15) is one of the five genes currently identified as being mutated in Usher 1 syndrome and defines Usher syndrome type 1F (USH1F). When PCDH15 was systematically analyzed for mutations in a cohort of USH1 patients, a number of deletions were found. Here we characterize...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Le Guédard, Sandie, Faugère, Valérie, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
פורמט: Artigo
שפה:Inglês
יצא לאור: Molecular Vision 2007
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2533038/
https://ncbi.nlm.nih.gov/pubmed/17277737
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!