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Results 1 - 10 of 203 for acad
  1. ACADS gene 
    The ACADS gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase (SCAD). This enzyme functions within mitochondria, the ...
    https://medlineplus.gov/genetics/gene/acads - Genetics
  2. ACAD8 gene 
    ... of IBD deficiency. More About This Health Condition ACAD-8 ACAD8_HUMAN Activator-recruited cofactor 42 kDa ...
    https://medlineplus.gov/genetics/gene/acad8 - Genetics
  3. STAC3 gene 
    ... 2 and inhibit calcium-dependent inactivation. Proc Natl Acad Sci U S A. 2018 Feb 6;115( ... muscle Ca2+ channel by mutant Stac3. Proc Natl Acad Sci U S A. 2017 Jan 10;114( ...
    https://medlineplus.gov/genetics/gene/stac3 - Genetics
  4. GARS1 gene 
    ... dimer interface and neurite distribution defect. Proc Natl Acad Sci U S A. 2007 Jul 3;104( ... human neuropathy caused by Gars mutations. Proc Natl Acad Sci U S A. 2017 Apr 18;114( ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  5. RPE65 gene 
    ... vision but with slow rod kinetics. Proc Natl Acad Sci U S A. 2008 Sep 30;105( ... retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998 Mar 17;95( ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  6. LIPH gene 
    ... recessive hypotrichosis simplex with woolly hair. J Am Acad Dermatol. 2009 Nov;61(5):813-8. doi: ... with woolly hair and/or hypotrichosis. J Eur Acad Dermatol Venereol. 2013 May;27(5):545-9. ...
    https://medlineplus.gov/genetics/gene/liph - Genetics
  7. ERAP1 gene 
    ... peptides by a "molecular ruler" mechanism. Proc Natl Acad Sci U S A. 2005 Nov 22;102( ... genotypes rather than rare haplotype combinations. Proc Natl Acad Sci U S A. 2017 Jan 17;114( ...
    https://medlineplus.gov/genetics/gene/erap1 - Genetics
  8. TERT gene 
    ... anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A. 2005 Nov 1;102( ... fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A. 2007 May 1;104( ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
  9. ASPA gene 
    ... brain enzyme impaired in Canavan disease. Proc Natl Acad Sci U S A. 2007 Jan 9;104( ... lipid synthesis in Canavan's disease. Proc Natl Acad Sci U S A. 2005 Apr 5;102( ...
    https://medlineplus.gov/genetics/gene/aspa - Genetics
  10. TCOF1 gene 
    ... proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006 Sep 5;103( ... by interacting with upstream binding factor. Proc Natl Acad Sci U S A. 2004 Jul 20;101( ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
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