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Results 1 - 10 of 23 for "Cirrhosis," familial
  1. CFTR gene 
    ... cAMP-dependent chloride channel CF CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) cystic fibrosis transmembrane conductance regulator, ...
    https://medlineplus.gov/genetics/gene/cftr - Genetics
  2. TERC gene 
    ... been found in cases that run in families (familial pulmonary fibrosis) and, less commonly, in isolated (sporadic) cases. Some individuals with idiopathic pulmonary fibrosis due to TERC gene mutations have family members with other features of dyskeratosis congenita (described ...
    https://medlineplus.gov/genetics/gene/terc - Genetics
  3. TERT gene 
    ... been found in cases that run in families (familial pulmonary fibrosis) and, less commonly, in isolated (sporadic) cases. Some individuals with idiopathic pulmonary fibrosis due to TERT gene mutations have family members with other features of dyskeratosis congenita (described ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
  4. PHOX2A gene 
    ... A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J ...
    https://medlineplus.gov/genetics/gene/phox2a - Genetics
  5. KIF21A gene 
    ... KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2218-23. doi: 10.1167/iovs.03-1413. Citation on PubMed
    https://medlineplus.gov/genetics/gene/kif21a - Genetics
  6. ABCA3 gene 
    ... Condition MedlinePlus Genetics provides information about Idiopathic pulmonary fibrosis More About This Health Condition ABC transporter 3 ABC-C ABC-C transporter ABC3 ABCA3_HUMAN ATP-binding cassette sub-family A member 3 ATP-binding cassette transporter 3 ...
    https://medlineplus.gov/genetics/gene/abca3 - Genetics
  7. TUBB3 gene 
    The TUBB3 gene provides instructions for making one version of a protein called beta-tubulin (β-tubulin). This protein is part of the tubulin family of proteins ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  8. TUBB2B gene 
    The TUBB2B gene provides instructions for making one version of a protein called beta-tubulin (β-tubulin). This protein is part of the tubulin family of proteins ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  9. DSP gene 
    ... Condition MedlinePlus Genetics provides information ... II (described above). A few families have had similar skin, hair, and heart abnormalities ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
  10. SCNN1B gene 
    ... sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. ... in a Serbian family and literature review of underlying mutations. Eur J ...
    https://medlineplus.gov/genetics/gene/scnn1b - Genetics
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