Výsledky vyhledávání - "Demichele, G"

The effect of parental gender on the GAA dynamic mutation in the FRDA gene

Autor: Pianese, L., Francesca Cavalcanti, Demichele, G., Filla, A., Campanella, G., Calabrese, O., Castaldo, I., Monticelli, A., Cocozza, S.

Publikováno v: American journal of human genetics 60 (1997): 460–463.
info:cnr-pdr/source/autori:Pianese L, Cavalcanti F, DeMichele G, Filla A, Campanella G, Calabrese O, Castaldo I, MONTICELLI A, Cocozza S/titolo:The effect of parental gender on the GAA dynamic mutation in the FRDA gene/doi:/rivista:American journal of human genetics/anno:1997/pagina_da:460/pagina_a:463/intervallo_pagine:460–463/volume:60
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2dd77886d1b8f3ef99561d4224b4781d
https://pubmed.ncbi.nlm.nih.gov/9012421

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The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

Autor: Filla, A., Demichele, G., Francesca Cavalcanti, Pianese, L., Monticelli, A., Campanella, G., Cocozza, S.

Publikováno v: Scopus-Elsevier
ResearcherID
American journal of human genetics 59 (1996): 554–556.
info:cnr-pdr/source/autori:Filla A, DeMichele G, Cavalcanti F, Pianese L, MONTICELLI A, Campanella G, Cocozza S/titolo:The relationship between trinucleotide (GAA) repeat length and clinical features in friedreich ataxia/doi:/rivista:American journal of human genetics/anno:1996/pagina_da:554/pagina_a:556/intervallo_pagine:554–556/volume:59

Friedreich ataxia (FA) is associated with the expansion of a GAA trinucleotide repeat in the first intron of the X25 gene. We found both alleles expanded in 67 FA patients from 48 Italian families. Five patients from three families were compound hete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f7848994e8cacda116e30ff4d73f2f90
http://hdl.handle.net/11588/332863

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