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Lancet, The, ISSN 0140-6736, 2014, Volume 384, Issue 9950, pp. 1273 - 1281
Journal Article
Journal of Bone and Mineral Metabolism, ISSN 0914-8779, 3/2013, Volume 31, Issue 2, pp. 136 - 143
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 06/2018, Volume 63, Issue 6, pp. 755 - 759
Pathogenic variants in specific complement-related genes lead to atypical hemolytic uremic syndrome (aHUS). Some reports have indicated that patients with... 
Introns | Humans | RNA, Messenger - genetics | Infant | Male | Hemolytic-Uremic Syndrome - genetics | Phenotype | RNA Splicing | Age of Onset | Polymerase Chain Reaction | Membrane Cofactor Protein - genetics | Mutation | Complement C3 - genetics
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2010, Volume 95, Issue 12, pp. E511 - E518
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2017, Volume 62, Issue 7, pp. 733 - 735
Alport syndrome-diffuse leiomyomatosis (AS-DL, OMIM: 308940) is a rare variant of the X-linked Alport syndrome that shows overgrowth of visceral smooth muscles... 
GENETICS & HEREDITY | Leiomyomatosis - complications | Nephritis, Hereditary - complications | Base Sequence | Gene Deletion | Humans | Collagen Type IV - genetics | Nephritis, Hereditary - genetics | Leiomyomatosis - genetics
Journal Article