Furthermore, when compared to the
deletion mutation identified by Horn et al.
In SA individuals with Afrikaner ancestry, three null mutations in FANCA (del E12-31 (
deletion mutation of exons 12 to 31); del E11-17 (
deletion mutation of exons 11 to 17) and 3398delA (point mutation at position 3398)) have previously been shown to account for ~80% of FA cases.
showed that a mitochondrial factor WAH-1 promotes this externalization through a scramblase, as demonstrated by a
deletion mutation of scrm-1 (SCRaMblase, tm698).
However, due to lack of flanking exons of hot spot region in this study, it is worthwhile or recommended to confirm the
deletion mutation by latest high-throughput next-generation techniques, namely, MLPA, direct sequencing or arrayCGH; the functional properties of the dystrophin proteins and to correlate such important cases for further appraisal.
A total of 1038 in-frame
deletion mutation cases diagnosed with DMD or BMD were collected in the period from 2002 to 2013.
FANCG 637-643
deletion mutation: Frequency in black patients with acute myeloid leukaemia or aplastic anaemia and the clinical phenotype of homozygotes.
Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp
deletion mutation at codons 36/37/38/39.
Association analysis between the
deletion mutation and carcass and meat quality traits was performed also in 394 pigs of the "Large White x Meishan" [F.sub.2] resource population.
africanum by spoligotyping, single nucleotide polymorphisms, a
deletion mutation, and phenotypic traits, confirming it as a cause of tuberculosis in the United States.
Interestingly all three mixed-ancestry families had at least one suspected
deletion mutation. A haemoglobin E (HbE) mutation was identified in one family, and a codon 30 (G>C) mutation in another.
A novel
deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
