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Results 1 - 6 of 6 for "5’" cap
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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