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American Journal of Human Genetics|August 1, 1991
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneityM D'Alessio, F Ramirez, B D Blumberg, et al.American Journal of Human Genetics|August 1, 1991
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite populationC R Fisher, C W Fisher, D T Chuang, et al.American Journal of Human Genetics|July 29, 2008
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apartKathleen S Arnos, Katherine O Welch, Mustafa Tekin, et al.American Journal of Human Genetics|July 29, 2008
HLA-DRB1*0401 and HLA-DRB1*0408 are strongly associated with the development of antibodies against interferon-beta therapy in multiple sclerosisSteve Hoffmann, Sabine Cepok, Verena Grummel, et al.American Journal of Human Genetics|February 1, 1991
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF)M Zeviani, P Amati, N Bresolin, et al.American Journal of Human Genetics|October 1, 1991
Why does the human factor IX gene have a G + C content of 40%?C D Bottema, M J Bottema, R P Ketterling, et al.American Journal of Human Genetics|October 1, 1991
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi JewsA Zimran, T Gelbart, B Westwood, et al.American Journal of Human Genetics|October 1, 1991
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferaseJ K Reichardt, S Packman, S L WooAmerican Journal of Human Genetics|November 4, 2008
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeAlexander G Bassuk, Robyn H Wallace, Aimee Buhr, et al.American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.Pageof 979