Literature DB >> 9452100

A common mutation among blacks with mut- methylmalonic aciduria.

C E Adjalla1, A R Hosack, N V Matiaszuk, D S Rosenblatt.   

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Year:  1998        PMID: 9452100     DOI: 10.1002/humu.1380110179

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


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  5 in total

1.  Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.

Authors:  Lian-Shu Han; Zhuo Huang; Feng Han; Yu Wang; Zhu-Wen Gong; Xue-Fan Gu
Journal:  World J Pediatr       Date:  2017-01-19       Impact factor: 2.764

2.  Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

Authors:  Osamu Sakamoto; Toshihiro Ohura; Yoichi Matsubara; Masaki Takayanagi; Shigeru Tsuchiya
Journal:  J Hum Genet       Date:  2006-10-31       Impact factor: 3.172

3.  Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

Authors:  Lian-Shu Han; Zhuo Huang; Feng Han; Jun Ye; Wen-Juan Qiu; Hui-Wen Zhang; Yu Wang; Zhu-Wen Gong; Xue-Fan Gu
Journal:  World J Pediatr       Date:  2015-10-11       Impact factor: 2.764

4.  Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.

Authors:  Dina A Ghoraba; Magdy M Mohammed; Osama K Zaki
Journal:  Meta Gene       Date:  2015-02-25

5.  Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.

Authors:  Siyu Dai; Yanting Yang; Yaqian Li; Hongqian Liu
Journal:  Genet Res (Camb)       Date:  2022-07-22       Impact factor: 1.375

  5 in total

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