Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.
Castro
R
R
Heil
S G
SG
Rivera
I
I
Jakobs
C
C
de Almeida
I T
IT
Blom
H J
HJ
D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011174:Portugal
D004247:DNA; D003541:Cystathionine beta-Synthase