TY  - GEN
AU  - de Franchis,R
AU  - Kraus,E
AU  - Kozich,V
AU  - Sebastio,G
AU  - Kraus,J P
TI  - Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype
SN  - 1059-7794
PY  - 1999///1103
KW  - Alleles
KW  - Child
KW  - Child, Preschool
KW  - Cystathionine beta-Synthase
KW  - genetics
KW  - Female
KW  - Fibroblasts
KW  - Genotype
KW  - Homocystinuria
KW  - Humans
KW  - Male
KW  - Mutagenesis
KW  - Mutation
KW  - Phenotype
N1  - Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<453::AID-HUMU4>3.0.CO;2-K
ER  -