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Endocrine Journal, ISSN 0918-8959, 2014, Volume 61, Issue 6, pp. 629 - 633
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that usually results from paternally and maternally transmitted mutations in genes for... 
Uniparental disomy | Autosomal recessive disorder | Congenital adrenal hyperplasia | Mutation | CYP11B1 | ISODISOMY | MEIOSIS | ENDOCRINOLOGY & METABOLISM | CHILDREN | Index Medicus
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 10/2012, Volume 29, Issue 5, pp. 558 - 561
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2004, Volume 128A, Issue 3, pp. 271 - 275
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 12/2018, Volume 12, Issue 12, pp. ID01 - ID02
Journal Article
Journal Article
Veterinary World, ISSN 0972-8988, 2010, Volume 3, Issue 11, pp. 523 - 525
The present review is to summarise findings on one of the most important recessive hereditary disorder deficiency of uridine monophosphate synthase (DUMPS) in... 
Orotic acid | DUMPS | Autosomal recessive disorder | Pyrimidine nucleotide | Holstein Friesian
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2013, Volume 34, Issue 10, pp. 2442.e11 - 2442.e17
Journal Article