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Results 51 - 60 of 2,061 for Lead
  1. COL6A2 gene 
    ... type VI collagen in different ways. Some variants lead to altered α2(VI) chains that can be ... VI collagen. All of these COL6A2 gene variants lead to a reduction or absence of functional collagen ...
    https://medlineplus.gov/genetics/gene/col6a2 - Genetics
  2. COL6A1 gene 
    ... type VI collagen in different ways. Some variants lead to altered α1(VI) chains that can be ... VI collagen. All of these COL6A1 gene variants lead to a reduction or absence of functional collagen ...
    https://medlineplus.gov/genetics/gene/col6a1 - Genetics
  3. RRM2B gene 
    ... RRM2B gene mutations associated with progressive external ophthalmoplegia lead to impaired RNR activity. These mutations result in ... muscle tissue, possibly because impairment of RNR activity leads to a shortage of nucleotides, although the mechanism ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  4. WT1 gene 
    ... R394W).The variants that cause Denys-Drash syndrome lead to the production of an abnormal WT1 protein ... kidneys and genitalia. Abnormal development of these organs leads to the signs and symptoms of Denys-Drash ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  5. PDGFRA gene 
    ... specific positions (a process called phosphorylation). This process leads to the activation of a series of proteins ... and are called somatic mutations. Somatic mutations, which lead to sporadic GISTs, are present only in the ...
    https://medlineplus.gov/genetics/gene/pdgfra - Genetics
  6. X chromosome 
    ... small testes that do not function normally and lead to a reduction in the levels of testosterone ( ... resulting reduction in the amount of this enzyme leads to the signs and symptoms of microphthalmia with ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  7. Congenital insensitivity to pain with anhidrosis 
    ... An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is ... biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In ...
    https://medlineplus.gov/...tal-insensitivity-to-pain-with-anhidrosis - Genetics
  8. Primary myelofibrosis 
    ... have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red ... breath. A loss of white blood cells can lead to an increased number of infections, and a ...
    https://medlineplus.gov/genetics/condition/primary-myelofibrosis - Genetics
  9. Histiocytosis-lymphadenopathy plus syndrome 
    ... or more tissues in the body, which can lead to organ or tissue damage. The buildup often ... speculate that the resulting impairment of nucleoside transport leads to a buildup of nucleosides in lysosomes, which ...
    https://medlineplus.gov/...stiocytosis-lymphadenopathy-plus-syndrome - Genetics
  10. Autosomal dominant leukodystrophy with autonomic disease 
    ... experience an inability to sweat (anhidrosis), which can lead to a dangerously high body temperature.In ADLD, ... to be particularly affected. Increased lamin B1 levels lead to decreased expression of genes that play a ...
    https://medlineplus.gov/...ant-leukodystrophy-with-autonomic-disease - Genetics
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