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Results 1 - 10 of 30 for null
  1. FOLR1 gene 
    ... H, Debatin KM, Opladen T, Schwarz K. Congenital null mutations of the FOLR1 gene: a progressive neurologic ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  2. Complete plasminogen activator inhibitor 1 deficiency 
    ... deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene. Blood. 1997 ...
    https://medlineplus.gov/...sminogen-activator-inhibitor-1-deficiency - Genetics
  3. COL11A1 gene 
    ... expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet. 2012 Aug;82(2):147- ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  4. Hereditary fructose intolerance 
    ... Zee T, Tolan DR. Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the ...
    https://medlineplus.gov/.../hereditary-fructose-intolerance - Genetics
  5. Rosacea 
    ... H, Yildirim H, Adiguzel A. GSTM1 and GSTT1 null genotypes as possible heritable factors of rosacea. Photodermatol ...
    https://medlineplus.gov/genetics/condition/rosacea - Genetics
  6. Glycogen storage disease type IV 
    ... O, ter Laak H, Minetti C, Bruno C. Null mutations and lethal congenital form of glycogen storage ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  7. Stüve-Wiedemann syndrome 
    ... Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve- ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  8. Fibrochondrogenesis 
    ... expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet. 2012 Aug;82(2):147- ...
    https://medlineplus.gov/genetics/condition/fibrochondrogenesis - Genetics
  9. Schwartz-Jampel syndrome 
    ... Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve- ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  10. N-acetylglutamate synthase deficiency 
    ... Panglao MG, Cheng SF, Packman S, Tuchman M. Null mutations in the N-acetylglutamate synthase gene associated ...
    https://medlineplus.gov/.../n-acetylglutamate-synthase-deficiency - Genetics
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