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Results 1 - 10 of 16 for Central core disease
  1. RYR1 gene 
    ... RYR1 gene have been identified in people with central core disease. This condition is characterized by muscle weakness, primarily ... Most of the RYR1 gene mutations involved in central core disease affect single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  2. SMC1A gene 
    ... Citation on PubMed or Free article on PubMed Central Mannini L, Liu J, Krantz ID, Musio A. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat. 2010 Jan;31(1):5-10. ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  3. ACTA2 gene 
    ... Citation on PubMed or Free article on PubMed Central Milewicz DM, Cecchi AC. Heritable Thoracic Aortic Disease Overview. 2003 Feb 13 [updated 2023 May 4]. ...
    https://medlineplus.gov/genetics/gene/acta2 - Genetics
  4. SLC52A3 gene 
    ... Citation on PubMed or Free article on PubMed Central Yonezawa A, Inui K. Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013 Apr- ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  5. ERCC2 gene 
    ... of ERCC2 PubMed ERCC ... Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum ...
    https://medlineplus.gov/genetics/gene/ercc2 - Genetics
  6. HJV gene 
    ... L, Beutler E. Hematologically important mutations: iron storage diseases. Blood Cells Mol Dis. 2004 Jul-Aug;33(1):40-4. doi: 10.1016/j.bcmd.2004.03.002. No abstract available. Citation on PubMed Core AB, Canali S, Babitt JL. Hemojuvelin and bone ...
    https://medlineplus.gov/genetics/gene/hjv - Genetics
  7. DYNC1H1 gene 
    ... heavy chain proteins bind together to form the core of the dynein complex. Combinations of ... disease More About This Health Condition At least eight ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  8. SLC52A2 gene 
    ... transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82. doi: 10.1093/brain/aws161. Epub 2012 Jun 26. Citation on PubMed or Free article on PubMed Central Yao Y, Yonezawa A, Yoshimatsu H, Masuda S, ...
    https://medlineplus.gov/genetics/gene/slc52a2 - Genetics
  9. CUL3 gene 
    ... Citation on PubMed or Free article on PubMed Central Ohta A, ... isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. ...
    https://medlineplus.gov/genetics/gene/cul3 - Genetics
  10. RUNX1 gene 
    ... function. The RUNX1 gene mutations associated with these diseases are somatic mutations and are not inherited. They are found only in certain cells of the body. acute myeloid leukemia 1 protein AML1 AMLCR1 CBF-alpha-2 CBFA2 core-binding factor, runt domain, alpha subunit 2 oncogene ...
    https://medlineplus.gov/genetics/gene/runx1 - Genetics
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