Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
STEROID 21-HYDROXYLASE DEFICIENCY - 2 ADDITIONAL MUTATIONS IN SALT-WASTING DISEASE AND RAPID SCREENING OF DISEASE-CAUSING MUTATIONS
Autore:
WEDELL A; LUTHMAN H;
Indirizzi:
KAROLINSKA HOSP,ROLF LUFT CTR DIABET RES,DEPT CLIN GENET S-10401 STOCKHOLM 60 SWEDEN KAROLINSKA HOSP,ROLF LUFT CTR DIABET RES,DEPT CLIN GENET S-10401 STOCKHOLM 60 SWEDEN
Titolo Testata:
Human molecular genetics
fascicolo: 5, volume: 2, anno: 1993,
pagine: 499 - 504
SICI:
0964-6906(1993)2:5<499:S2D-2A>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL ADRENAL-HYPERPLASIA; CYP21B GENES; COMPLEMENT; AMPLIFICATION; HAPLOTYPES; PSEUDOGENE; COMPONENT; HLA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
29
Recensione:
Indirizzi per estratti:
Citazione:
A. Wedell e H. Luthman, "STEROID 21-HYDROXYLASE DEFICIENCY - 2 ADDITIONAL MUTATIONS IN SALT-WASTING DISEASE AND RAPID SCREENING OF DISEASE-CAUSING MUTATIONS", Human molecular genetics, 2(5), 1993, pp. 499-504

Abstract

A method for genetic diagnosis of steroid 21-hydroxylase deficiency was developed based on allele-specific PCR. With this approach, genotyping of fourteen mutations and diagnosis of homozygous gene deletions can be performed within hours from tissue sampling. One patient with salt-wasting disease had normal genotype at all positions screened. DNA sequencing revealed two novel mutations, a G to C transversion at the conserved splice donor site of intron 7 and a TGG to TAG nonsense mutation at Trp 406 in exon 9. Allele-specific PCR was established also for these mutations and used to screen for their presence in the pseudogene. However, the two novel mutations were not found in at least 34 pseudogenes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 20:05:46