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69 results
  1. MOCS2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocs2
    ... form of the disorder designated type B or complementation group B. The MOCS2 gene mutations involved in molybdenum cofactor deficiency likely eliminate the ...
  2. Molybdenum cofactor deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency
    ... disorder, named types A, B, and C (or complementation groups A, B, and C). The forms have the same signs and symptoms but are distinguished by their genetic cause: MOCS1 gene mutations cause type A, MOCS2 gene mutations cause type ...
  3. CIITA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ciita
    ... Bontron S, Steimle V, Ucla C, Eibl MM, Mach B. Two novel mutations in the MHC ... Its Dual Roles in MHC Gene Transcription. Front Immunol. 2013 Dec 20;4:476. ...
  4. MTRR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mtrr
    ... E, Pineda M, Coimbra E, Suormala T, Fowler B, Kozich V. CblE type of ... complementation group of disorders in folate/cobalamin metabolism. Hum Mol ...
  5. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... ANEMIA, COMPLEMENTATION GROUP A; FANCA 300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB 300515 FANCB GENE; FANCB 600185 BRCA2 GENE; BRCA2 600375 X-RAY ...
  6. pdf2018NewHeadingsSingleColumn508.pdf 
    https://www.nlm.nih.gov/.../2018NewHeadingsSingleColumn508.pdf
    ... and stabilize these proteins at homologous recombination sites. Mutations in the PALB2 gene are associated with FANCONI ANEMIA complementation group N; type 3 PANCREATIC NEOPLASMS; and susceptibility to ...
  7. Fanconi anemia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/fanconi-anemia
    ... Disorders (NORD) Clinical Trials ClinicalTrials.gov Catalog of Genes and Diseases from OMIM FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC FANCONI ...
  8. ERCC3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ercc3
    ... xeroderma pigmentosum group B-complementing protein xeroderma pigmentosum, complementation group B Additional Information & Resources Tests Listed in the Genetic Testing Registry Tests of ERCC3 Scientific Articles on PubMed PubMed Catalog of Genes and Diseases from OMIM ERCC EXCISION REPAIR 3, ...
  9. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... Moser HW, Suzuki Y, Kondo N, Fujiki Y. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J ...
  10. GPHN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gphn
    ... form of the disorder designated type C or complementation group C. This is the rarest form of the condition, affecting only a small number of individuals. The GPHN gene mutations involved in molybdenum cofactor deficiency likely reduce or ...
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