نتائج البحث

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis.

• Authors : Wang, Chao^1,2 (AUTHOR); Liu, Yang³ (AUTHOR); Cai, Fengying⁴ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Jun2020, Vol. 8 Issue 6, p1-9. 9p.

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Report on the heterozygosis mutations of c.567dupT, p.(Ilel90Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.

• Authors : Kai Liu¹; Guohong Chen¹; Yanli Ma¹

Subjects: *HETEROZYGOSITY; *GENETIC mutation; *CHILD patients

• Source: Pakistan Journal of Pharmaceutical Sciences. May2016 Supplement, Vol. 29, p1109-1111. 3p. 1 Graph.

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Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.

• Authors : Yanan Zong¹; Ning Liu¹; Zhenhua Zhao¹

• Source: BMC Medical Genetics. Jul2015, Vol. 16 Issue 1, p1-6. 6p.

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Epimutation of MMACHC compound to a genetic mutation in cblC cases.

• Authors : Zhang, Xiaoman¹ (AUTHOR); Chen, Qiong² (AUTHOR); Song, Yinsen¹ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Jun2021, Vol. 9 Issue 6, p1-9. 9p.

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Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.

• Authors : Bacci, Giacomo M.¹ ; Donati, Maria A.²; Pasquini, Elisabetta²

• Source: Acta Ophthalmologica (1755375X). Dec2017, Vol. 95 Issue 8, pe776-e782. 7p.

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Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.

• Authors : Koenig, Jens¹ ; Rutsch, Frank²; Bockmeyer, Clemens³

• Source: Pediatric Nephrology. Jul2015, Vol. 30 Issue 7, p1203-1206. 4p. 1 Graph.

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Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

• Authors : Mei-Ying Liu¹; Yan-Ling Yang²; Ying-Chen Chang³

• Source: Journal of Human Genetics. Sep2010, Vol. 55 Issue 9, p621-626. 6p. 1 Diagram, 4 Charts.

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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

• Authors : Lerner-Ellis, Jordan P¹; Tirone, Jamie C¹; Pawelek, Peter D²

• Source: Nature Genetics. Jan2006, Vol. 38 Issue 1, p93-100. 8p. 2 Diagrams, 3 Charts, 1 Graph.

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Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.

• Authors : He, Ruxuan¹ (AUTHOR); Mo, Ruo¹ (AUTHOR); Shen, Ming² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/3/2020, Vol. 15 Issue 1, p1-9. 9p.

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