Zobrazeno 1 - 3
of 3
pro vyhledávání: '"S D, Batish"'
Autor:
Puneet Opal, S. D. Batish, Ying Zhang Chen, N. Nagan, Craig L. Bennett, Alexander G. Bassuk, Phillip F. Chance
Publikováno v:
Neurogenetics. 8:45-49
Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4). The authors describe clinical and molecular genetic studies of mother and daug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767898038a71c8f11a4b2695228d1475
https://doi.org/10.1007/s10048-006-0067-8
https://doi.org/10.1007/s10048-006-0067-8
Publikováno v:
Blood. 90(1)
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder defined by cellular hypersensitivity to DNA cross-linking agents; mutations in the gene defective in FA complementation group C, FAC, are responsible for the syndrome in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7b332a36a8ca36f336cd7f46afa790bf
https://pubmed.ncbi.nlm.nih.gov/9207444
https://pubmed.ncbi.nlm.nih.gov/9207444
Autor:
S. D. Batish, Marie Y. Davis, Thomas D. Bird, Phillip D. Swanson, C. Sheehy, Corrine O. Smith
Publikováno v:
Neurology. 78:P05.028-P05.028
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f3aaf971b6b93eb5a587f54f0b856ef
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p05.028
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p05.028