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Results 1 - 10 of 437 for Abnormal cellular phenotype
  1. COMP gene 
    ... Vertel BM. COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J Cell Biochem. 2008 Feb 15;103(3):778-87. ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  2. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Newborn Screening/Reference Desk ... Newborn Screening ... Genetic Testing/Reference Desk ... Genetic Testing ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  3. Bernard-Soulier syndrome 
    ... aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica. 2011 Mar;96(3):417-23. doi: 10.3324/haematol.2010.032631. Epub 2010 Dec 20. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome - Genetics
  4. XK gene 
    ... protein to be produced at all. Missing or abnormal XK protein also affects another blood ... blood group precursor (McLeod phenotype) KX Kx antigen membrane transport protein XK X- ...
    https://medlineplus.gov/genetics/gene/xk - Genetics
  5. KRAS gene 
    ... mutations that cause cardiofaciocutaneous syndrome (described above). The abnormal K-Ras protein ... phenotype. People with this condition have variable signs and ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  6. Mucous Membrane Pemphigoid From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Pemphigus/Specifics ... Pemphigus ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information about ...
    https://rarediseases.info.nih.gov/.../mucous-membrane-pemphigoid - External Health Links
  7. Chromosome 22 
    ... self-destructing, which leads to overproduction of the abnormal cells and a shortage of normal blood cells.The ... leads to uncontrolled growth and division (proliferation) and abnormal maturation and survival of cells, causing tumor development. More About This Health Condition ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  8. Pearson syndrome 
    ... the cell after treatment with certain dyes. These abnormal cells are called ring sideroblasts.In people with Pearson ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  9. GJB3 gene 
    ... in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. Exp Dermatol. 2019 Oct;28(10):1106- ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  10. 1q21.1 microdeletion 
    ... and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet. 2012 Jul;20(7): ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
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