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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 4, pp. 753 - 760.e11
Journal Article
Journal Article
Clinics in Laboratory Medicine, ISSN 0272-2712, 1997, Volume 17, Issue 1, pp. 59 - 72
There are many mutations that cause cystic fibrosis, however, only a few account for the majority of the cases. This article provides a review of the molecular... 
POPULATION | DELTA-F508 | AMPLIFICATION | DNA | GENE-THERAPY | MUTATIONS | MEDICAL LABORATORY TECHNOLOGY | CFTR GENE | IDENTIFICATION | PULMONARY-DISEASE | PRESENTING SIGN | DNA - analysis | Cystic Fibrosis - genetics | Humans | Cystic Fibrosis - diagnosis | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Female | Male | Mutation
Journal Article
Archives of Neurology, ISSN 0003-9942, 01/2006, Volume 63, Issue 1, p. 129
  β-Mannosidosis is a rare inborn error of metabolism with various phenotypes, including mental retardation, behavioral problems, hearing loss, and recurrent... 
Errors | Enzymes | Genotype & phenotype | Genetics | Mutation | Behavior | Metabolism | Mental retardation | Patients | Neurological disorders
Journal Article
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