Detalhe da pesquisa
1.
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Nat Genet
; 23(3): 296-303, 1999 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-10610178
2.
Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.
Eur J Hum Genet
; 4(3): 127-34, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8840112
3.
Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
Eur J Hum Genet
; 8(10): 771-6, 2000 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11039577
4.
[Illegitimate transcription: discovery and application to gene molecular pathology]. / La transcription illégitime: découverte et application à la pathologie moléculaire des gènes.
C R Seances Soc Biol Fil
; 186(4): 371-6, 1992.
Artigo
em Francês
| MEDLINE | ID: mdl-1301225
5.
Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.
Hum Genet
; 94(1): 65-8, 1994 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-7518409
6.
CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.
Hum Genet
; 88(5): 508-12, 1992 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-1372586
7.
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
Am J Hum Genet
; 56(3): 623-9, 1995 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-7534040
8.
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.
Genomics
; 60(3): 309-19, 1999 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-10493830
9.
Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: a multiparametric study involving transmission electron microscopy and fetal DNA amplification.
Prenat Diagn
; 11(10): 787-98, 1991 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-1800990
10.
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Hum Mol Genet
; 9(4): 637-44, 2000 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-10699187
11.
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
J Med Genet
; 30(7): 621-2, 1993 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-7692049
12.
Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene.
Hum Mol Genet
; 1(4): 281-2, 1992 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-1284626
13.
Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals.
Hum Mol Genet
; 2(12): 2141-2, 1993 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-7509229
14.
Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.
Hum Mutat
; 3(1): 69-70, 1994.
Artigo
em Inglês
| MEDLINE | ID: mdl-7509685