Literature DB >> 7564249

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.

M P Sperandeo1, M Panico, A Pepe, M Candito, R de Franchis, J P Kraus, G Andria, G Sebastio.   

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Year:  1995        PMID： 7564249     DOI： 10.1007/BF00711769

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


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  5 in total

1.  Molecular defect in a patient with pyridoxine-responsive homocystinuria.

Authors:  V Kozich; R de Franchis; J P Kraus
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

2.  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

3.  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

4.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

5.  Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.

Authors:  J P Kraus; K Le; M Swaroop; T Ohura; T Tahara; L E Rosenberg; M D Roper; V Kozich
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150
  5 in total
  8 in total

1.  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

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

Authors:  V Kozich; M Janosík; J Sokolová; J Oliveriusová; M Orendác; J P Kraus; D Elleder
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

3.  Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.

Authors:  M P Sperandeo; M Candito; G Sebastio; M O Rolland; C Turc-Carel; H Giudicelli; P Dellamonica; G Andria
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  High prevalence of a mutation in the cystathionine beta-synthase gene.

Authors:  M Y Tsai; M Bignell; K Schwichtenberg; N Q Hanson
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

5.  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

6.  CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Authors:  Soraia Poloni; Fernanda Sperb-Ludwig; Taciane Borsatto; Giovana Weber Hoss; Maria Juliana R Doriqui; Emília K Embiruçu; Ney Boa-Sorte; Charles Marques; Chong A Kim; Carolina Fischinger Moura de Souza; Helio Rocha; Marcia Ribeiro; Carlos E Steiner; Carolina A Moreno; Pricila Bernardi; Eugenia Valadares; Osvaldo Artigalas; Gerson Carvalho; Hector Y C Wanderley; Johanna Kugele; Melanie Walter; Lorena Gallego-Villar; Henk J Blom; Ida Vanessa D Schwartz
Journal:  Mol Genet Genomic Med       Date:  2018-01-20       Impact factor: 2.183

7.  A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.

Authors:  Xinxin Zhang; Dehua Ma; Wei Zou; Yibing Ding; Chengchu Zhu; Haiyan Min; Bin Zhang; Wei Wang; Baofu Chen; Minhua Ye; Minghui Cai; Yanqing Pan; Lei Cao; Yueming Wan; Yu Jin; Qian Gao; Long Yi
Journal:  Respir Res       Date:  2016-05-27

Review 8.  The Spectrum of Mutations of Homocystinuria in the MENA Region.

Authors:  Duaa W Al-Sadeq; Gheyath K Nasrallah
Journal:  Genes (Basel)       Date:  2020-03-20       Impact factor: 4.096
  8 in total

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