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Results 91 - 100 of 128 for Complex V deficiency
  1. SDHD gene 
    ... MG, Rink L, von Mehren M. Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front ... occult germ-line mutations in SDHD, a mitochondrial complex II gene, in ... Janeway KA, Kim SY, Lodish M, Nose V, Rustin P, Gaal J, Dahia PL, Liegl B, ...
    https://medlineplus.gov/genetics/gene/sdhd - Genetics
  2. PYGM gene 
    ... Serratrice G, Pouget J. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: ...
    https://medlineplus.gov/genetics/gene/pygm - Genetics
  3. HYCC1 gene 
    ... van der Knaap MS, Lisanti MP, Minetti C. Deficiency of hyccin, a newly identified membrane protein, causes ...
    https://medlineplus.gov/genetics/gene/hycc1 - Genetics
  4. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  5. CIITA gene 
    ... in a second patient from MHC class II deficiency complementation group A. Hum Genet. 1997 Apr;99( ...
    https://medlineplus.gov/genetics/gene/ciita - Genetics
  6. SMARCB1 gene 
    ... the absence or dysfunction of SMARCB1 protein. This deficiency likely impairs the tumor suppressor functions of the ... N. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris ... Simsek-Kiper PO, Lopez-Gonzalez V, Kuechler A, Lyonnet S, Mari F, Marozza A, ...
    https://medlineplus.gov/genetics/gene/smarcb1 - Genetics
  7. COG5-congenital disorder of glycosylation 
    ... Kleinert P, Schnabel S, Baumgartner M, Hennet T. Deficiency in COG5 causes a moderate form of congenital ... Citation on PubMed Rymen D, Keldermans L, Race V, Regal L, Deconinck ... Golgi (COG) complex in protein glycosylation. Carbohydr Res. 2008 Aug 11; ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
  8. BOLA3 gene 
    ... scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  9. PIGV gene 
    ... for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J ...
    https://medlineplus.gov/genetics/gene/pigv - Genetics
  10. ITGA2B gene 
    ... the formation of functional integrin αIIbβ3. A shortage (deficiency) of functional integrin αIIbβ3 prevents sufficient binding of ... alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) integrin, alpha-2B platelet ... Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Negrier C, Nugent D, Oiron RD, Rand ML, ...
    https://medlineplus.gov/genetics/gene/itga2b - Genetics
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