Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients: Three novel mutations

Clinical Genetics

Volumn 60, Issue 2, 2001, Pages 161-163

  Castro, R ^a   Heil, S G ^a   Rivera, I ^a   Jakobs, C ^a   Tavares de Almeida, I ^a   Blom, H J ^a  

^a RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYSTATHIONINE BETA SYNTHASE; CYTOSINE; DNA; GUANINE; METHIONINE;

AUTOSOMAL INHERITANCE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA POLYMORPHISM; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC SCREENING; HOMOCYSTINURIA; HUMAN; LETTER; MALE; MOLECULAR GENETICS; PORTUGAL; PRIORITY JOURNAL;

CYSTATHIONINE BETA-SYNTHASE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HOMOCYSTINURIA; HUMANS; MALE; MUTATION; PEDIGREE; PORTUGAL;

EID: 0034859418     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600212.x     Document Type: Letter

References (9)

1. Disorders of transsulfuration
2. Cystathionine β-synthase mutations in homocystinuria
3. Thermolabile 5, 10-methylene-tetrahydrofolate reductase as a cause of mild hyperhomocysteinemia
4. Improved identification of heterozygotes for homocystinuria due to cystathionine β-synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts
5. A simple salting out procedure for extracting DNA from human nucleated cells
6. A rapid and mild procedure for the isolation of DNA from mammalian cells
7. Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method
8. High prevalence of a mutation in the cystathionine β-synthase gene
9. A common 844ins68 insertion variant in the cystathionine β-synthase gene