Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 10 for "5’" cap
  1. Cryopyrin-associated periodic syndromes 
    ... rare, with an estimated prevalence of 2 to 5 per million individuals, collectively. However, it is thought that the conditions are underdiagnosed since the features of CAPS are similar to other more common conditions. CAPS ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  2. TPM2 gene 
    ... mutation. Neurology. 2007 Mar 6;68(10):772-5. doi: 10.1212/01.wnl.0000256339.40667.fb. Citation on PubMed Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta- ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  3. Cap myopathy 
    ... Waddell L, Kornberg A, McLean C, North KN. Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009. ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  4. Antiphospholipid syndrome 
    ... Update on the catastrophic antiphospholipid syndrome and the "CAPS Registry". Semin Thromb Hemost. 2012 Jun;38(4):333-8. doi: 10.1055/s-0032-1304718. Epub 2012 Mar 5. Citation on PubMed Committee on Practice Bulletins-Obstetrics, ...
    https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome - Genetics
  5. CLIP2 gene 
    ... gene provides instructions for making a protein called CAP-Gly domain containing linker protein 2. The protein ... of Williams syndrome. More About This Health Condition CAP-GLY domain containing linker protein 2 CLIP-115 ...
    https://medlineplus.gov/genetics/gene/clip2 - Genetics
  6. Microcephaly-capillary malformation syndrome 
    ... instead of one copy from each parent. MIC-CAP syndrome Genetic Testing Registry: Microcephaly-capillary malformation syndrome ... 10.1002/ajmg.a.34048. Epub 2011 May 5. No abstract available. Citation on PubMed McDonell LM, ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  7. TGFBI gene 
    ... CSD1 CSD2 CSD3 EBMD kerato-epithelin LCD1 RGD-CAP RGD-containing collagen-associated protein transforming growth factor, ... type I. Biochem Biophys Res Commun. 2000 Jul 5;273(2):649-53. doi: 10.1006/bbrc. ...
    https://medlineplus.gov/genetics/gene/tgfbi - Genetics
  8. TPM3 gene 
    ... Branger D, Pouget J. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009 ... disorders. Brain Dev. 2001 Aug;23(5):298-302. doi: 10.1016/s0387-7604(01) ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  9. NLRP3 gene 
    ... been found to cause cryopyrin-associated periodic syndromes (CAPS). CAPS are a group of conditions that have overlapping ... episodes of skin rash, fever, and joint pain. CAPS include three conditions known as familial cold autoinflammatory ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  10. ACTA1 gene 
    ... variant has been identified as a cause of cap myopathy. The variant replaces the amino acid methionine ... interfere with the proper assembly of thin filaments. Cap myopathy is characterized by the presence of cap- ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics