Literature DB >> 9266356

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

V Kozich1, M Janosík, J Sokolová, J Oliveriusová, M Orendác, J P Kraus, D Elleder.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9266356     DOI： 10.1023/a:1005325911665

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


× No keyword cloud information.
  5 in total

1.  Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.

Authors:  P Chomczynski; N Sacchi
Journal:  Anal Biochem       Date:  1987-04       Impact factor: 3.365

2.  Homocystinuria: heterozygote detection using phytohemagglutinin-stimulated lymphocytes.

Authors:  J L Goldstein; B K Campbell; S M Gartler
Journal:  J Clin Invest       Date:  1973-01       Impact factor: 14.808

3.  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

4.  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

5.  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
  5 in total
  2 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

Review 2.  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
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.