Literature DB >> 8353501

Molecular defect in a patient with pyridoxine-responsive homocystinuria.

V Kozich1, R de Franchis, J P Kraus.   

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Year:  1993        PMID： 8353501     DOI： 10.1093/hmg/2.6.815

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  11 in total

1.  A multilocus genotyping assay for candidate markers of cardiovascular disease risk.

Authors:  S Cheng; M A Grow; C Pallaud; W Klitz; H A Erlich; S Visvikis; J J Chen; C R Pullinger; M J Malloy; G Siest; J P Kane
Journal:  Genome Res       Date:  1999-10       Impact factor: 9.043

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

Authors:  M Coudé; J Aupetit; M T Zabot; P Kamoun; B Chadefaux-Vekemans
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

3.  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

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.  A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

Authors:  V E Shih; J M Fringer; R Mandell; J P Kraus; G T Berry; R A Heidenreich; M S Korson; H L Levy; V Ramesh
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

6.  Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

Authors:  Viktor Kozich; Jitka Sokolová; Veronika Klatovská; Jakub Krijt; Miroslav Janosík; Karel Jelínek; Jan P Kraus
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

7.  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

8.  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

9.  Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

Authors:  J Michaud; G N Thompson; L C Brody; G Steel; C Obie; G Fontaine; K Schappert; C G Keith; D Valle; G A Mitchell
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

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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