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Results 1 - 10 of 83 for Protein Z deficiency
  1. HADHB gene 
    ... on PubMed Central Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta- ...
    https://medlineplus.gov/genetics/gene/hadhb - Genetics
  2. HADHA gene 
    ... on PubMed Central Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta- ...
    https://medlineplus.gov/genetics/gene/hadha - Genetics
  3. PSAP gene 
    ... ClinVar Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque M. Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of ...
    https://medlineplus.gov/genetics/gene/psap - Genetics
  4. PPT1 gene 
    ... Nov 24. Citation on PubMed Kim SJ, Zhang Z, Sarkar C, Tsai PC, Lee YC, Dye L, Mukherjee AB. Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  5. KANK2 gene 
    ... PubMed KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING ... Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J ...
    https://medlineplus.gov/genetics/gene/kank2 - Genetics
  6. SERPINA1 gene 
    ... most common variant that causes alpha-1 antitrypsin deficiency replaces the ... gene called the Z allele. Another common variant creates a version of ...
    https://medlineplus.gov/genetics/gene/serpina1 - Genetics
  7. LEPR gene 
    ... SS, Khan AR, Khan HN. Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity. Biochem Genet. 2016 Oct;54(5):565-72. doi: 10.1007/s10528-016-9751-z. Epub 2016 Jun 16. Citation on PubMed
    https://medlineplus.gov/genetics/gene/lepr - Genetics
  8. ACOX1 gene 
    ... straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for ... Peroxisomal acyl CoA oxidase deficiency. J Pediatr. 2002 Jan;140(1):128-30. ...
    https://medlineplus.gov/genetics/gene/acox1 - Genetics
  9. DLAT gene 
    ... Citation on PubMed Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King ... with the core proteins of the human pyruvate dehydrogenase complex. J Mol ...
    https://medlineplus.gov/genetics/gene/dlat - Genetics
  10. TTPA gene 
    ... Di Donato S. Ataxia with isolated vitamin E deficiency: neurological phenotype, ... of human alpha-tocopherol transfer protein. J Mol Biol. 2003 Aug 15;331(3): ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
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