Zobrazeno 1 - 10 of 371 pro vyhledávání: '"BARALLE FE"'
2
The primary structure of the human epsilon-globin gene
Autor: Baralle, FE, Shoulders, CC, Proudfoot, NJ
We describe the complete nucleotide sequence of the human epsilon-globin gene including 387 nucleotides of 5' flanking sequence and 301 nucleotides of 3' flanking sequence. The arrangement of coding, noncoding and intervening sequences in this gene i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7cf54bdc9c01abbfd30210d5b3257b59
https://ora.ox.ac.uk/objects/uuid:8ff68260-0050-4371-af1f-fad652d1da3f
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3
hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes
Autor: BURATTI E, BARALLE M, DE CONTI L, BARALLE D, AYALA YM, BARALLE FE, ROMANO, MAURIZIO
We have recently reported a disease-causing substitution (+5G > C) at the donor site of NF-1 exon 3 that produces its skipping. We have now studied in detail the splicing mechanism involved in analyzing RNA-protein complexes at several 5' splice site
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::de15e03d312630f2cf4855296eb35ef2
http://hdl.handle.net/11368/1699843
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8
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION
Autor: BIANCHI G, TRIPODI G, SALARDI S, BARBER BR, GARCIA R, LEONI P, TORIELLI L, CUSI D, FERRANDI M, PINNA LA, BARALLE FE, FERRARI P., CASARI , GIORGIO NEVIO
The Milan hypertensive strain of rats (MHS) develops a genetic form of renal hypertension that, when compared to its normotensive control (MNS), shows renal dysfunction similar to that of a subset of human patients with primary hypertension. MHS and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::7bfd352f111c9e531b1b5401b268f3a0
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10
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
Autor: Pagani, F Stuani, C Tzetis, M Kanavakis, E Efthymiadou, A Doudounakis, S Casals, T Baralle, FE
The increase in genome scanning data, derived from clinical genetics practice, is producing a wealth of information on human sequence variability. The critical issue is to identify if a given nucleotide change results in a benign polymorphism or a di
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::193f3fa8db9dd75d9413e3ef76033936
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3083705
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Plný text Recenzováno Digitální knihovna AV ČR
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