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Titolo:
FREQUENT NORMAL ALLELE LOSS AND MATERNAL ORIGIN OF THE MUTATION SHOWNBY DNA HOMODUPLEX ANALYSIS IN A SEVERELY AFFECTED PATIENT WITH ADENOMATOUS POLYPOSIS-COLI
Autore:
GAYTHER SA; REES M; DELHANTY JDA;
Indirizzi:
UNIV COLL LONDON,GALTON LAB,DEPT GENET & BIOMETRY,WOFSON HOUSE,4 STEPHENSON WAY LONDON NW1 2HE ENGLAND
Titolo Testata:
Annals of Human Genetics
, volume: 58, anno: 1994,
parte:, 2
pagine: 101 - 106
SICI:
0003-4800(1994)58:<101:FNALAM>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
RETINOBLASTOMA; IDENTIFICATION; CANCER; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
S.A. Gayther et al., "FREQUENT NORMAL ALLELE LOSS AND MATERNAL ORIGIN OF THE MUTATION SHOWNBY DNA HOMODUPLEX ANALYSIS IN A SEVERELY AFFECTED PATIENT WITH ADENOMATOUS POLYPOSIS-COLI", Annals of Human Genetics, 58, 1994, pp. 101-106

Abstract

An atypically high frequency of loss of heterozygosity at chromosome 5q22 in small adenomas from a severely affected new mutation patient with adenomatous polyposis coli was recently reported. DNA homoduplex analysis has now been used to show that the deletion in the adenomas extends to include the APC locus and that the normal allele is lost. These data also prove the maternal origin of the mutation.

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Documento generato il 22/09/20 alle ore 16:35:04