Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Werner syndrome

OMIM:277700
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolWRN
Reference transcriptNM_000553.4
DNA Changec.2179dupT
A.A. Changep.Cys727Leufs*5
Exon/Intronexon 19
Mutation Typeduplication
ReferenceFriedrich K, Lee L, Leistritz DF, N?rnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, N?rnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, et al.WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Hum Genet. 2010 Jul;128(1):103-11.