Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

Background: Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive skeletal dysplasia associated with mental retardation. Direct sequencing of genomic DNA has identified causative mutations in the gene Dymeclin (chromosome 18q12–21), with the majority predicting the generation of a t...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kinning, E, Tufarelli, C, Winship, W, Aldred, M, Trembath, R
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2005
Pynciau:
Online Mutation Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735964/
https://ncbi.nlm.nih.gov/pubmed/16326827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033829
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