Literature DB >> 8990018

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

B Aral1, M Coudé, J London, J Aupetit, J F Chassé, M T Zabot, B Chadefaux-Vekemans, P Kamoun.   

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Year:  1997        PMID： 8990018     DOI： 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 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.  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 3.  How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.

Authors:  Warren D Kruger
Journal:  Hum Genet       Date:  2021-10-12       Impact factor: 5.881

4.  New insights into hallux valgus by whole exome sequencing study.

Authors:  Jun Jia; Junyi Li; Huiqi Qu; Mengyu Li; Sipeng Zhang; Jun Hao; Xinyi Gao; Xinyi Meng; Yan Sun; Hakon Hakonarson; Xiantie Zeng; Qianghua Xia; Jin Li
Journal:  Exp Biol Med (Maywood)       Date:  2021-04-29

Review 5.  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
  5 in total

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