Literature DB >> 9870207

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

M Coudé1, J Aupetit, M T Zabot, P Kamoun, B Chadefaux-Vekemans.   

Abstract

We describe four new mutations in the cystathionine beta-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.

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Year:  1998        PMID： 9870207     DOI： 10.1023/a:1005466601461

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  16 in total

1.  Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.

Authors:  B Aral; M Coudé; J London; J Aupetit; J F Chassé; M T Zabot; B Chadefaux-Vekemans; P Kamoun
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

2.  Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.

Authors:  P A Dawson; D A Cochran; B T Emmerson; J P Kraus; N P Dudman; R B Gordon
Journal:  Aust N Z J Med       Date:  1996-04

3.  Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs.

Authors:  J F Chassé; E Paly; D Paris; V Paul; P M Sinet; P Kamoun; J London
Journal:  Biochem Biophys Res Commun       Date:  1995-06-26       Impact factor: 3.575

Review 4.  Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

Authors:  J P Kraus
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

Authors:  F L Hu; Z Gu; V Kozich; J P Kraus; V Ramesh; V E Shih
Journal:  Hum Mol Genet       Date:  1993-11       Impact factor: 6.150

6.  The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Authors:  G Sebastio; M P Sperandeo; M Panico; R de Franchis; J P Kraus; G Andria
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

7.  Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  V Kozich; J P Kraus
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

8.  Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

Authors:  M Marble; M T Geraghty; R de Franchis; J P Kraus; D Valle
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

9.  Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.

Authors:  R de Franchis; V Kozich; R R McInnes; J P Kraus
Journal:  Hum Mol Genet       Date:  1994-07       Impact factor: 6.150

10.  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.

Authors:  M P Sperandeo; M Panico; A Pepe; M Candito; R de Franchis; J P Kraus; G Andria; G Sebastio
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
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  3 in total

1.  Surrogate genetics and metabolic profiling for characterization of human disease alleles.

Authors:  Jacob A Mayfield; Meara W Davies; Dago Dimster-Denk; Nick Pleskac; Sean McCarthy; Elizabeth A Boydston; Logan Fink; Xin Xin Lin; Ankur S Narain; Michael Meighan; Jasper Rine
Journal:  Genetics       Date:  2012-01-20       Impact factor: 4.562

2.  The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Authors:  Roser Urreizti; Carla Asteggiano; Marta Bermudez; Alfonso Córdoba; Mariana Szlago; Carola Grosso; Raquel Dodelson de Kremer; Laura Vilarinho; Vania D'Almeida; Mercedes Martínez-Pardo; Luís Peña-Quintana; Jaime Dalmau; Jaime Bernal; Ignacio Briceño; María Luz Couce; Marga Rodés; Maria Antonia Vilaseca; Susana Balcells; Daniel Grinberg
Journal:  J Hum Genet       Date:  2006-02-15       Impact factor: 3.172

3.  Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

Authors:  Marisa I S Mendes; Henrique G Colaço; Desirée E C Smith; Rúben J J F Ramos; Ana Pop; Silvy J M van Dooren; Isabel Tavares de Almeida; Leo A J Kluijtmans; Mirian C H Janssen; Isabel Rivera; Gajja S Salomons; Paula Leandro; Henk J Blom
Journal:  J Inherit Metab Dis       Date:  2013-08-23       Impact factor: 4.982
  3 in total

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