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Nephron Clinical Practice, ISSN 1660-2110, 11/2010, Volume 118, Issue 1, pp. c31 - c36
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 204 - 213
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 174 - 187
Journal Article
Rheumatology, ISSN 1462-0324, 07/2018, Volume 57, Issue 7, pp. 1180 - 1185
Journal Article
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 03/2014, Volume 9, Issue 3, pp. 527 - 535
Journal Article
American Journal of Kidney Diseases, ISSN 0272-6386, 04/2018, Volume 71, Issue 4, pp. 495 - 500
Mucin 1 kidney disease, previously referred to as medullary cystic kidney disease type 1, is a rare hereditary kidney disease. It is one of several diseases... 
Autosomal dominant tubulointerstitial kidney disease (ADTKD) | kidney biopsy | mucin 1 kidney disease (MKD) | proteinuria | MUC1 mutation | hereditary kidney disease | chronic kidney disease (CKD) | frameshift mutation | ISCHEMIA-REPERFUSION INJURY | UROLOGY & NEPHROLOGY | DIAGNOSIS | PROTEIN | TYPE-1
Journal Article
Advances in Chronic Kidney Disease, ISSN 1548-5595, 2016, Volume 24, Issue 2, pp. 86 - 93
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019
To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. Retrospective study from 1996 to 2017 analyzing... 
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, p. 188
  In the PI(3,5)P^sub 2^ biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is... 
Proteins | Pediatrics | Lipids | Biosynthesis | Mutation | Neurological disorders
Journal Article
Nephron Clinical Practice, ISSN 1660-2110, 11/2010, Volume 118, Issue 1, pp. c65 - c66
Journal Article
Nephron Clinical Practice, ISSN 1660-2110, 11/2010, Volume 118, Issue 1, pp. c64 - c64
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, p. 204
Through linkage analysis and candidate gene sequencing, we identified three the autosomal-dominant inheritance of early onset anemia, hypouricosuric... 
Proteins | Anemia | Amino acids | Mutation | Kidney diseases
Journal Article
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