Fabry disease: Identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches

Biochemical and Biophysical Research Communications

Volumn 257, Issue 3, 1999, Pages 708-713

  Germain, Dominique P ^a,b   Poenaru, Livia ^a,b  

^a Univ René Descartes ^*  (France)

^b INSTITUT COCHIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID; MESSENGER RNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; ENZYME DEFICIENCY; FABRY DISEASE; FEMALE; GENE MUTATION; GENETIC COUNSELING; HEMANGIOKERATOMA; HETEROZYGOTE DETECTION; HUMAN; KIDNEY FAILURE; LEUKOCYTE; LIPID METABOLISM; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARESTHESIA; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSLATION; VASCULAR DISEASE; X CHROMOSOME INACTIVATION;

EID: 0033590939     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1999.0310     Document Type: Article

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