Complexity in genetic diseases: how patients inform the science by ignoring the dogma.
McCabe
Linda L
LL
Mattel Children's Hospital at UCLA, Los Angeles, California 90095-1752, USA. emccabe@mednet.ucla.edu
McCabe
Edward R B
ER
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D014644:Genetic Variation; D005826:Genetics, Medical / Q000379:methods / Q000639:trends; D005838:Genotype; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D010641:Phenotype
D005991:Glycerol Kinase