Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 del99

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 363-366

  Kozich V ^a   Janosik M ^a   Sokolova J ^a   Oliveriusova J ^a   Orendac M ^a   Kraus, J P ^b   Elleder, D ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b Children's Hospital Colorado   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; CZECH REPUBLIC; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HOMOCYSTINURIA; HUMAN; HUMAN CELL; MALE; SLOVAKIA;

ALLELES; BASE SEQUENCE; CYSTATHIONINE BETA-SYNTHASE; CZECH REPUBLIC; FEMALE; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MINISATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SLOVAKIA;

EID: 0030878539     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005325911665     Document Type: Conference Paper

References (7)

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4. Kožich V, Kraus JP (1992) Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum Mutat 1: 113-123.
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6. Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G (1995) The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet 56: 1324-1331.
7. Sperandeo MP, Panico M, Pepe A, et al (1995) Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11. J Inher Metab Dis 18: 211-241.