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Results 1 - 10 of 229 for Life
  1. GALT gene 
    ... classic form of galactosemia, a condition that causes life-threatening signs and symptoms beginning shortly after birth. ... of type I galactosemia: disease-associated mutations. IUBMB Life. 2011 Nov;63(11):949-54. doi: 10. ...
    https://medlineplus.gov/genetics/gene/galt - Genetics
  2. RAG1 gene 
    ... various combinations. The variety of proteins produced throughout life following V(D)J recombination provides greater recognition ... B and T cells result in the frequent, life-threatening infections of Omenn syndrome. The decrease in ...
    https://medlineplus.gov/genetics/gene/rag1 - Genetics
  3. RAG2 gene 
    ... various combinations. The variety of proteins produced throughout life following V(D)J recombination provides greater recognition ... B and T cells result in the frequent, life-threatening infections of Omenn syndrome. The decrease in ...
    https://medlineplus.gov/genetics/gene/rag2 - Genetics
  4. KCNJ11 gene 
    ... glucose (hyperglycemia) within the first 6 months of life.KCNJ11 gene mutations that cause permanent neonatal diabetes ... have hyperglycemia during the first 6 months of life, but their blood glucose returns to normal by ...
    https://medlineplus.gov/genetics/gene/kcnj11 - Genetics
  5. ASS1 gene 
    ... usually appears in the first few days of life. It causes life-threatening health problems, including poor feeding, vomiting, seizures, ... of ammonia during the first few days of life leads to poor feeding, vomiting, seizures, and the ...
    https://medlineplus.gov/genetics/gene/ass1 - Genetics
  6. CFH gene 
    ... of the disorder that usually appears early in life.Most CFH gene mutations associated with atypical hemolytic- ... lead to end-stage renal disease (ESRD), a life-threatening condition that prevents the kidneys from filtering ...
    https://medlineplus.gov/genetics/gene/cfh - Genetics
  7. PLEC gene 
    ... people with EB-PA are born with a life-threatening obstruction of the digestive tract called pyloric ... progressive muscle weakness and wasting (atrophy) later in life. More than 20 PLEC gene mutations have been ...
    https://medlineplus.gov/genetics/gene/plec - Genetics
  8. ABCC8 gene 
    ... sugar (hyperglycemia) within the first 6 months of life.ABCC8 gene mutations that cause permanent neonatal diabetes ... have hyperglycemia during the first 6 months of life, but their blood sugar returns to normal by ...
    https://medlineplus.gov/genetics/gene/abcc8 - Genetics
  9. ACTA2 gene 
    ... aortic dissection). Aortic aneurysm and dissection can cause life-threatening internal bleeding.ACTA2 gene mutations that are ... arterial dissection: phenotype and molecular pathogenesis. Cell Mol Life Sci. 2010 Jun;67(11):1799-815. doi: ...
    https://medlineplus.gov/genetics/gene/acta2 - Genetics
  10. EIF2AK4 gene 
    ... eIF2alpha kinases: their structures and functions. Cell Mol Life Sci. 2013 Oct;70(19):3493-511. doi: ... protein kinase Gcn2 in yeast and mammals. IUBMB Life. 2012 Dec;64(12):971-4. doi: 10. ...
    https://medlineplus.gov/genetics/gene/eif2ak4 - Genetics
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