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Results 1 - 7 of 7 for Congenital factor V deficiency
  1. LEP gene 
    ... involvement and how it may be altered in congenital leptin deficiency are unknown. More About This Health Condition LEP_HUMAN LEPD leptin (murine obesity homolog) leptin (obesity homolog, mouse) OB obese protein obese, mouse, homolog of obesity factor OBS Tests of LEP PubMed LEPTIN; LEP NCBI ...
    https://medlineplus.gov/genetics/gene/lep - Genetics
  2. PROC gene 
    ... called factor V.) APC then works with factor V to inactivate factor VIIIa. At least 270 mutations in the PROC gene have been found to cause protein C deficiency. Most of these mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/proc - Genetics
  3. FH gene 
    ... 00470.x. Citation on PubMed Bayley JP, Launonen V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 Mar 25;9:20. ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  4. CTDP1 gene 
    ... B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmuller H, ... cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 ...
    https://medlineplus.gov/genetics/gene/ctdp1 - Genetics
  5. MTHFR gene 
    ... factor for neural tube defects, there are many factors that can contribute to folate deficiency.MTHFR gene polymorphisms are common worldwide, with an ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
  6. CAVIN1 gene 
    ... fat and the other health problems associated with congenital generalized lipodystrophy type 4. More About This Health Condition CAVIN cavin-1 CGL4 FKSG13 polymerase I and transcript release factor PTRF RNA polymerase I and transcript release factor ...
    https://medlineplus.gov/genetics/gene/cavin1 - Genetics
  7. WAS gene 
    ... Health Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition IMD2 WASP WASP_HUMAN WASPA Tests of WAS PubMed WASP ACTIN NUCLEATION PROMOTING FACTOR; WAS NCBI Gene ClinVar Ancliff PJ, Blundell MP, ...
    https://medlineplus.gov/genetics/gene/was - Genetics