Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 19 for complete analysis
  1. CNGA3 gene 
    ... mutations underlie about 25 percent of cases of complete achromatopsia, a form of the disorder characterized by ... color vision.The CNGA3 gene mutations that underlie complete achromatopsia affect the production or function of the ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  2. CNGB3 gene 
    ... cause 50 to 70 percent of cases of complete achromatopsia, a form of the disorder characterized by ... gene. This mutation can be written as 1148delC.Complete achromatopsia occurs frequently in Pingelapese islanders, who live ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  3. FLCN gene 
    ... plural space), potentially leading to a partial or complete collapse of the lung. Many of these mutations ... Hesson LB, Morton DG, Latif F, Maher ER. Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor ...
    https://medlineplus.gov/genetics/gene/flcn - Genetics
  4. MSH2 gene 
    ... gene.MSH2 gene variants result in near or complete loss of MSH2 protein production. A shortage of ... N, Georgijevic D, Nielsen FC, Rasmussen LJ. Functional analysis of HNPCC-related missense mutations in MSH2. Mutat ...
    https://medlineplus.gov/genetics/gene/msh2 - Genetics
  5. MLH1 gene 
    ... gene.MLH1 gene variants result in near or complete loss of MLH1 protein production. A shortage of ... AM, Benet-Pages A, Holinski-Feder E. Comprehensive analysis of the MLH1 promoter region in 480 patients ...
    https://medlineplus.gov/genetics/gene/mlh1 - Genetics
  6. MSH6 gene 
    ... gene.MSH6 gene variants result in near or complete loss of MSH6 protein production. A shortage of ... Muller-Koch Y, Golovleva I, Gronberg H. Mutation analysis of the MLH1, MSH2 and MSH6 genes in ...
    https://medlineplus.gov/genetics/gene/msh6 - Genetics
  7. PMS2 gene 
    ... gene.PMS2 gene variants result in near or complete loss of PMS2 protein production. A shortage of ... K, Schar P, Jiricny J, Marra G. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal ...
    https://medlineplus.gov/genetics/gene/pms2 - Genetics
  8. RBM8A gene 
    ... copies of chromosome 1; studies indicate that the complete loss of RNA-binding motif protein 8A is ... Dunbrack RL Jr, Godwin AK. Identification and structural analysis of human RBM8A and RBM8B: two highly conserved ...
    https://medlineplus.gov/genetics/gene/rbm8a - Genetics
  9. ARSB gene 
    ... VI; however, mutations known to result in the complete absence of arylsulfatase B activity cause severe signs ... Teles E, Sa Miranda MC, Hopwood JJ. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/arsb - Genetics
  10. DPYS gene 
    ... features of dihydropyrimidinase deficiency is unclear. Failure to complete this step in the breakdown of pyrimidines also ... Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am J Hum ...
    https://medlineplus.gov/genetics/gene/dpys - Genetics
previous · 1 · 2 · next