Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis

Prenatal Diagnosis

Volumn 18, Issue 6, 1998, Pages 611-617

  Sequeiros, Jorge ^a,b   Maciel, Patrícia ^a,f   Taborda, Filomena ^c   Lêdo, Susana ^a   Rocha, Jose Carlos ^a   Lopes, Alice ^d   Reto, Fátima ^c   Fortuna, Ana Maria ^e   Rousseau, Marylène ^f   Fleming, Manuela ^b   Coutinho, Paula ^c   Rouleau, Guy A ^f   Jorge, Carlos Santos ^c  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^d Centro Hospitalar Universitario do Porto   (Portugal)

^e NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^f MONTREAL GENERAL HOSPITAL   (Canada)

Author keywords

CAG repeat; Dominant ataxias; Machado Joseph disease (MJD); Predictive testing; Prenatal counselling

Indexed keywords

ALLELE; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 14Q; CLINICAL PROTOCOL; FETUS; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; HUMAN CELL; MACHADO JOSEPH DISEASE; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; AMNIOCENTESIS; CHROMOSOMES, HUMAN, PAIR 14; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; GESTATIONAL AGE; HUMANS; MACHADO-JOSEPH DISEASE; MALE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; REPRESSOR PROTEINS;

ATAXIA;

EID: 17644449057     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199806)18:6<611::AID-PD289>3.0.CO;2-Y     Document Type: Article

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