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Clinical Chemistry, ISSN 0009-9147, 11/2012, Volume 58, Issue 11, pp. 1601 - 1603
Journal Article
Clinical Chemistry, ISSN 0009-9147, 11/2012, Volume 58, Issue 11, p. 1600
  According to the authors, CH-8 (Table 1) carried the 15 mutational loci in the defective CYP21A2 gene, but they obtained no data from an analysis of the 3'... 
Polypeptides | Genes | Classification | Genetics | Mutation | Kinases | Patients
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2012, Volume 58, Issue 2, pp. 421 - 430
BACKGROUND: Chimeric CYP21A1P/CYP21A2 genes, caused by homologous recombination between CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) and... 
Pseudogenes | Genotyping | homologous recombination | Introns | Primers | Cytochrome P450 | Hyperplasia | Genetic analysis | Chimeras | Mutation | Bioinformatics | Probes
Journal Article
Nature, ISSN 0028-0836, 04/2016, Volume 532, Issue 7598, pp. 250 - 254
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 02/2014, Volume 57, Issue 2-3, p. 95
Fibroblasts and direct tissue from human skin biopsies from CAH-X probands and age- and sex-matched controls were screened for transforming growth... 
Heart | Enzymes | Genetic disorders | RNA | Collagen | Bone morphogenetic proteins | Transforming growth factors
Journal Article
FASEB Journal, ISSN 0892-6638, 01/2012, Volume 26, Issue 2, pp. 668 - 677
The vascular type of the Ehlers-Danlos syndrome (vEDS) is caused by dominant-negative mutations in the procollagen type III (COL3A1) gene. Patients with this... 
Journal Article
Journal of Vascular Surgery, ISSN 0741-5214, 2009, Volume 49, Issue 5, pp. S9 - S10
Journal Article
FASEB Journal, ISSN 0892-6638, 2014, Volume 28, Issue 8, pp. 3313 - 3324
Journal Article
Journal of Vascular Surgery, ISSN 0741-5214, 2014, Volume 60, Issue 1, pp. 160 - 169
Journal Article
Journal Article
Journal of Molecular Diagnostics, The, ISSN 1525-1578, 2013, Volume 15, Issue 6, pp. 745 - 753
Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of adrenal steroidogenesis caused by mutations in... 
Pathology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 696 - 705
Journal Article
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