(2009) Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Haemophilia, 15, 1143-1153.Delev, D. , Pavlova, A. , Heinz, S. , Seifried, E. & Oldenburg, J. ( 2009 ) Factor 5 mutation profile in German patients with homozygous and heterozygous...
The first group consisted of a family with complete homozygous deletions of the vWF gene in the four probands. Gene dosage analysis was consistent with heterozygous deletions in both of the asymptomatic parents and four asymptomatic siblings of this kindred (P < 0.01). The second group was ...
Novel homozygous fibrinogen A± chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy.###Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II.###Dusart...
Clinical Va- lidity: The presence of a heterozygous FVL variant seems to be a weak risk factor for recurrence of VTE (odds ratio [OR]: 1.56). Rare homozygous FVL mutations present somewhat greater risks of VTE recurrence (OR: 2.65). The evidence for this increased risk is convincing, but...
(homozygous deletion of SMN1) in the Swedish population is around 1 in 12 000 live births,15 the frequency of heterozygous SMN1 deletions in Sweden can be estimated to be around 1/55, similar to what has been reported in France.16 The frequency of heterozygous SMN1 deletions found in the ...
(AB > 0.9 or AB < 0.1); (c) variant GQ per sample (from GATK) < 20; (d) heterozygous genotype calls on chrX nonPAR of the male donors; (e) heterozygous genotype calls on chrY nonPAR of the male donors or, heterozygous/homozygous calls on chrY nonPAR of female ...
YBR058C BY4743, heterozygous diploid [23195] Saccharomyces cerevisiae Meyen ex E.C. Hans .. yD2708 Homo sapiens, human 541 Penicillium aurantiogriseum var.viridicat .. I4-5783 Tetrahymena thermophila Nanney and McCoy FDA strain PCI 818 [CCUG 24715, DSM 1635, LM .. Brevundimonas diminuta (Lei...
Comparisons of allele transmission from informative heterozygous parents to children with NTD was performed by use of the McNemar test. Allele transmission from informative R653Q heterozygotes (n=215) (triads in which both parents and cases are heterozygous or homozygous are not informative) showed ...
Control samples with a known genotype corresponding to each class (homozygous wild-type, heterozygous, homozygous mutant), as well as no- DNA controls, need to be included for each assay. FV/PT 3.5.2 Detection of the factor II 20210GϾA mutation. A published or in-house primer set is ...
A study of TBX5, encoding a cardiac TF, found that a subset of genes dysregulated by homozygous TBX5 deletion showed consistent but milder changes following heterozygous deletion; some of these genes may represent dosage-sensitive effectors53. A study using doxycycline-induced expression found level...