Seven novel mutations inmut methylmalonic aciduria

Quantitative Analysis of Mitochondrial Protein Expression in Methylmalonic Acidemia by Two-Dimensional Difference Gel Electrophoresis

“…At this time, the gene involved in cblH and the gene and its localization of cblD variant 2 complementation groups have not been identified , (Figure ). Genetic analysis of patients with isolated MMA has been extensively performed and a large number of allelic variants have been identified in MCM, MMAA, and MMAB genes. ,,− …”

“…Genetic analysis of patients with isolated MMA has been extensively performed and a large number of allelic variants have been identified in MCM, MMAA, and MMAB genes. 5,7,[10][11][12][13][14][15] MCM, MMAA, MMAB proteins, the unknown cblH protein and maybe the unknown cblD variant 2 gene product are nuclear-encoded enzymes and transported into mitochondria.…”

Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis

“…One-hundred and sixty-three publications were eligible for the systematic review and reported individual-level case reports on 824 patients with a genetically proven inherited disorder of vitamin B 12 metabolism. 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 …”

“… Deposited data All papers that were used for data extraction are indicated in ref. 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 ...…”

Vergleichende Genomanalyse bei Mensch und Schwein am Beispiel ausgewählter syntenischer Regionen des humanen Chromosoms 6

“…Daraus ergab sich ein Heterozygotiegrad von 82,24 % und ein PIC-Wert (polymorphism information content) von 0,8045. Der Mikrosatellit erwies sich damit als informativer DNA-Marker.Trotz zahlreicher Berichte über Mutationen im humanen mut-Gen gibt es bis jetzt keine Hinweise darauf, ob ähnliche Mutationen auch bei Tieren auftreten[74][75][76][77]. Dies mag verschiedene Gründe haben.…”