- ... provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or ... Gene 1, 2 Complementation Group 3 % of FA Attributed to Pathogenic Variants in ...
- ... form of the disorder designated type B or complementation group B. The MOCS2 gene mutations involved in molybdenum cofactor deficiency likely eliminate the ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... Disorders (NORD) Clinical Trials ClinicalTrials.gov ... PIGMENTOSUM, VARIANT TYPE; XPV XERODERMA PIGMENTOSUM, COMPLEMENTATION ...
- ... syndrome. Additionally, it is unknown why the Trp361Cys mutation causes photosensitivity without the ... group 8 excision repair cross-complementing rodent repair deficiency, ...
- ... syndrome. Additionally, it is unknown why the Arg77Ter mutation causes photosensitivity without the other ... (yeast) homolog Additional Information & Resources ...
- ... phenotype in two patients homozygous for a novel mutation in the MTRR gene. J ... complementation group of disorders in folate/cobalamin metabolism. Hum Mol ...
28 results