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Results 1 - 10 of 1,491 for Test
  1. PHKA2 gene 
    ... in red blood cells when measured by laboratory tests. The subtypes are indistinguishable based on symptoms. More ... phosphorylase kinase, alpha 2 (liver) PYK PYKL XLG Tests of PHKA2 PubMed PHOSPHORYLASE KINASE, LIVER, ALPHA-2 ...
    https://medlineplus.gov/genetics/gene/phka2 - Genetics
  2. PTS gene 
    ... HUMAN sepiapterin synthase A sepiapterin synthesizing enzyme 1 Tests of PTS PubMed 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS ... synthase deficiency: relationship to motor tasks and neurophysiological tests. Brain Dev. 2004 Mar;26(2):93-8. ...
    https://medlineplus.gov/genetics/gene/pts - Genetics
  3. PCCB gene 
    ... carboxylase beta subunit propionyl-CoA carboxylase, beta subunit Tests of PCCB PubMed PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; ... Indian Propionic Acidemia Patients, and Their Outcomes. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. ...
    https://medlineplus.gov/genetics/gene/pccb - Genetics
  4. PCCA gene 
    ... subunit propionyl-CoA:carbon dioxide ligase alpha subunit Tests of PCCA PubMed PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; ... Indian Propionic Acidemia Patients, and Their Outcomes. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. ...
    https://medlineplus.gov/genetics/gene/pcca - Genetics
  5. MLH1 gene 
    ... type 2 (E. coli) MutL protein homolog 1 Tests of MLH1 PubMed DNA MISMATCH REPAIR PROTEIN MLH1; ... Patients Shows a Relatively High Mutational Prevalence. Genet Test Mol Biomarkers. 2018 Aug;22(8):492-497. ...
    https://medlineplus.gov/genetics/gene/mlh1 - Genetics
  6. MSH2 gene 
    ... 2, colon cancer, nonpolyposis type 1 (E. coli) Tests of MSH2 PubMed MUIR-TORRE SYNDROME; MRTES MutS ... Patients Shows a Relatively High Mutational Prevalence. Genet Test Mol Biomarkers. 2018 Aug;22(8):492-497. ...
    https://medlineplus.gov/genetics/gene/msh2 - Genetics
  7. BLM gene 
    ... Bloom syndrome, RecQ helicase-like BS MGC126616 RECQL3 Tests of BLM PubMed RECQ PROTEIN-LIKE 3; RECQL3 ... BLM gene mutations associated with Bloom syndrome. Genet Test. 2008 Jun;12(2):257-61. doi: 10. ...
    https://medlineplus.gov/genetics/gene/blm - Genetics
  8. GAN gene 
    ... GAN1 GAN_HUMAN giant axonal neuropathy (gigaxonin) KLHL16 Tests of GAN PubMed GIGAXONIN; GAN NCBI Gene ClinVar ... and constitutes a new penetrant and specific diagnostic test. Acta Neuropathol Commun. 2014 Apr 24;2:47. ...
    https://medlineplus.gov/genetics/gene/gan - Genetics
  9. HSD3B2 gene 
    ... 5-delta 4-isomerase type II HSD3B HSDB Tests of HSD3B2 PubMed ADRENAL HYPERPLASIA, CONGENITAL, DUE TO ... by HSD3B2 genotype study and not by hormone test. Clin Endocrinol (Oxf). 2003 Mar;58(3):323- ...
    https://medlineplus.gov/genetics/gene/hsd3b2 - Genetics
  10. SACS gene 
    ... sacsin spastic ataxia of Charlevoix-Saguenay (sacsin) SPAX6 Tests of SACS PubMed SACSIN; SACS NCBI Gene ClinVar ... autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genet Test. 2001 Fall;5(3):255-9. doi: 10. ...
    https://medlineplus.gov/genetics/gene/sacs - Genetics
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