Consequences of JAG1 mutations

Background: Alagille syndrome (AGS) is a multi-system, autosomal dominant disorder with highly variable expressivity, caused by mutations within the Jagged1 (JAG1) gene. Methods: We studied 53 mutation positive relatives of 34 AGS probands to ascertain the frequency of clinical findings in JAG1 muta...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Kamath, B, Bason, L, Piccoli, D, Krantz, I, Spinner, N
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Group 2003
Ämnen:
Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735339/
https://ncbi.nlm.nih.gov/pubmed/14684686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.12.891
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk