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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusCrow et al. (2006)Nature Genetics 38: 917–920Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital brain infectionCrow...
Hämäläinen RH, Mowat D, Gabbett MT, O’Brien TA, Kallijärvi J, Lehesjoki A-E. Wilms’ tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.Clin Genet 2006. © Blackwell Munksgaard, 2006Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal...
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunctionRaeder et al. (2006)Nature Genetics 38.1: 54–62.
Tassicker RJ, Marshall PK, Liebeck TA, Keville MA, Singaram BM, Richards FH. Predictive and pre-natal testing for Huntington Disease in Australia: results and challenges encountered during a 10-year period (1994–2003).Clin Genet 2006. © Blackwell Munksgaard, 2006This study summarizes...
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathyDelmaghani et al. (2006)Nature Genetics 38: 770–778
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