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.
Based on these data, Novartis initiated ongoing Phase II studies to prospectively explore the predictive value of different mechanisms of cMET dysregulation (including cMET amplification and cMET leading to exon 14 deletion mutation
) in advanced NSCLC.
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.