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Current issue

November 2009
Volume 46
Number 11

Impact factor: 5.713

Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics. Articles cover the molecular basis of human disease, human cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications.

Editor's Choice

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counseling and newborn screening

Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability...

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