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Titolo:
MUTATIONS OF THE FUMARYLACETOACETATE HYDROLASE GENE IN 4 PATIENTS WITH TYROSINEMIA, TYPE-I
Autore:
GROMPE M; ALDHALIMY M;
Indirizzi:
OREGON HLTH SCI UNIV,DEPT MOLEC & MED GENET PORTLAND OR 97201 OREGON HLTH SCI UNIV,DEPT PEDIAT PORTLAND OR 97201
Titolo Testata:
Human mutation
fascicolo: 2, volume: 2, anno: 1993,
pagine: 85 - 93
SICI:
1059-7794(1993)2:2<85:MOTFHG>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY TYROSINEMIA; DNA; DEFICIENT; SEQUENCE; CLONING; QUEBEC;
Keywords:
CHEMICAL MISMATCH CLEAVAGE; SPLICE MUTATION; FRENCH CANADIAN ALLELE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
31
Recensione:
Indirizzi per estratti:
Citazione:
M. Grompe e M. Aldhalimy, "MUTATIONS OF THE FUMARYLACETOACETATE HYDROLASE GENE IN 4 PATIENTS WITH TYROSINEMIA, TYPE-I", Human mutation, 2(2), 1993, pp. 85-93

Abstract

Tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by deficiency of the enzyme fumaryl acetoacetate hydrolase (FAH, EC 3.7.1.2.). We have used reverse transcription and the polymerize chain reaction to amplify the peptide coding region of the FAH cDNAfrom four patients with tyrosinemia type I. Chemical mismatch cleavage analysis and DNA sequencing were utilized to determine mutant alleles in all cases. A French Canadian patient was homozygous for a splice error mutation in the 3' portion of the gene. A second patient, from aconsanguineous pedigree in Iran, had the identical splice alteration. The third patient has a missense mutation, changing valine to glycinein codon 166. And finally two nonsense mutations in codons 357 and 364 were found in the fourth patient.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 19:56:55