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Results 1 - 7 of 7 for "4-{(2S" -"2-[(tert-butoxycarbonyl)amino]-3-methoxy-3-oxopropyl}phenyl)methaneseleninic" acid
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  1. GABA-transaminase deficiency 
    ... T deficiency Gamma aminobutyrate transaminase deficiency Gamma aminobutyric acid transaminase deficiency Gamma-aminobutyrate transaminase deficiency Gamma-aminobutyric ...
    https://medlineplus.gov/.../condition/gaba-transaminase-deficiency - Genetics
  2. SLC1A3 gene 
    ... instructions for making a protein called excitatory amino acid transporter 1 (EAAT1). The EAAT1 protein is primarily ... episodic ataxia change single protein building blocks (amino acids) in the EAAT1 protein. Research shows that the ...
    https://medlineplus.gov/genetics/gene/slc1a3 - Genetics
  3. FH gene 
    ... important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to ... these mutations replace one protein building block (amino acid) with another amino acid in the fumarase enzyme. ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  4. ATP1A2 gene 
    ... condition replaces a single protein building block (amino acid) in Na+/K+ ATPase: the amino acid threonine is replaced with the amino acid asparagine at protein position 378 (written as Thr378Asn ...
    https://medlineplus.gov/genetics/gene/atp1a2 - Genetics
  5. SCN1A gene 
    ... mutations changes a single protein building block (amino acid) in the NaV1.1 channel, which alters the ... NaV1.1 channel. Some mutations change single amino acids in the channel, which alter the channel's ...
    https://medlineplus.gov/genetics/gene/scn1a - Genetics
  6. KCNA1 gene 
    ... episodic ataxia change single protein building blocks (amino acids) in the alpha subunit of the Kv1.1 ... 1: a neuronal potassium channelopathy. Neurotherapeutics. 2007 Apr;4(2):258-66. doi: 10.1016/j.nurt.2007. ...
    https://medlineplus.gov/genetics/gene/kcna1 - Genetics
  7. Oculopharyngeal muscular dystrophy 
    ... 10 copies of the protein building block (amino acid) alanine occur in a row. This stretch of ... and Genetic Counselling. J Neuromuscul Dis. 2015 Jun 4;2(2):175-180. doi: 10.3233/JND-140060. ...
    https://medlineplus.gov/.../oculopharyngeal-muscular-dystrophy - Genetics