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1,306 Possible Causes for 2, A G,, ALB,, IVS6

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  • Osteoporosis

    Three included a treatment population (0.5 to 2 g of strontium ranelate daily) and one a prevention population (0.125 g, 0.5 g and 1 g daily).[ncbi.nlm.nih.gov] […] that BMD correlates negatively with BTMs and positively with E 2 and Mg (2 ) levels.[ncbi.nlm.nih.gov] Nutr Rev 1996;54:382-90. [ PubMed abstract ] Monsen ALB, Ueland PM. Homocysteine and methylmalonic acid in diagnosis and risk assessment from infancy to adolescent.[ods.od.nih.gov] […] randomized controlled trial, doses from 0.125 g to 1 g per day were evaluated in 160 early postmenopausal women ( Reginster 2002‐1 ).[doi.org]

    Missing: IVS6
  • Fabry Disease

    Electronic address: [email protected] 2 Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina[ncbi.nlm.nih.gov] In cases 2, 3, and 4, molecular genetics revealed a polymorphism: -10 C T; IVS 2-76_80del5; IVS4-16 A G; IVS6-22 C G, IVS6-22C T polymorphisms occurred in 8.9% and 3.7% of[ncbi.nlm.nih.gov] P and Concolino D (Catanzaro); Borsini W and Buchner S (Florence); Menni F and Ravaglia R (Milan); Parini R and Santus F (Monza); Di Vito R (Ortona); Burlina Al, Burlina Alb[eurheartj.oxfordjournals.org] An haplotype corresponding to the combination of three different nucleotide polymorphic variants (g. 7192-7198del5 g. 10115A G g. 10956 C T) at the heterozygous state, was[ncbi.nlm.nih.gov]

  • Reticular Dysgenesis

    K. (1991) Reduced response to G-CSF in W/Wv and SI/SLD mice. Leukemia. 5, 75-77. Fischer, A.. Landais. P.. Friedrich. W.. Morgan, G., Gerritsen, B.. Fasth. A.. Porta.[documents.tips] Lancet 2 , 1123–1125 (1959). 4. Emile, J.F. , Durandy, A. , Le Deist, F. , Fischer, A. & Brousse, N.[nature.com] We found a mutation in the WAS gene in the four patients of Wiskott-Aldrich syndrome analyzed: IVS6 5G A, IVS3 2-3insT, p. Arg34STOP and IVS8 1G A.[ddd.uab.cat] T) (CPAX6)*8 IgE specific dovleac (Cucurbita pepo) (CF225)*8 IgE specific Doxycycline (C62)*15 IgE specific drojdie (Saccharomyces cerevisiae) (CF45)*8 IgE specific dud alb[clinicamedicum.ro]

  • Flecainide

    Clin Toxicol 1990; 28: 433–444 André P, Berginiat N, Triaureau G, Lalande G. A propos d’un cas d'intoxication par la Flécaine. Urgences 1997;XV1:205-207 Son C-W, et al.[doi.org] […] mM) and a range of cytoplasmic [Ca(2 )], [Mg(2 )], pH, and [caffeine].[ncbi.nlm.nih.gov] Structural and gating changes of the sodium channel induced by mutation of a residue in the upper third of IVS6, creating an external access path for local anesthetics.[ncbi.nlm.nih.gov] .; University of Calgary and Cooperating Hospitals, Calgary, Alb.: D. George Wyse, M.D., Ph.D. (principal investigator), Henry J. Duff, M.D., L.[doi.org]

  • Parkinson's Disease

    Author information 1 Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. 2[ncbi.nlm.nih.gov] Identification of the splice junction mutation IVS6 1g a in the present study may further support this notion.[doi.org] T) (CPAX6)*8 IgE specific dovleac (Cucurbita pepo) (CF225)*8 IgE specific Doxycycline (C62)*15 IgE specific drojdie (Saccharomyces cerevisiae) (CF45)*8 IgE specific dud alb[clinicamedicum.ro] […] long-term walking performance (Hedges' g, 0.89, P   0.03), short-term (Hedges' g, 0.31, P   0.003) and long-term (Hedges' g, 0.54, P   0.003) UPDRS III scores.[ncbi.nlm.nih.gov]

  • Citrullinemia Type 2

    Other patients don't develop any symptoms until reaching the age of 1 or 2.[symptoma.com] ., Berkeley, CA) were performed on the basis of previous studies. [9,20] Screening for 4 high-frequency SLC25A13 mutations ( c.851_854del, c.1638_1660dup, IVS6 5G A , and[journals.lww.com] Fig. 1B, and a duplicated image of sorted hepatocyte-like cells stained with ALB and AFP in Fig. 2D and Suppl. Fig. 1F. Below, they have revised Suppl.[keio.pure.elsevier.com] T)AATTG nc-transcript-variant, reference, missense, stop-gained rs121908532 Pathogenic 96,121,733(-) ATTTC(A/G)ATCCT nc-transcript-variant, reference, missense rs569808959[genecards.org]

  • Human Albumin

    After doses 1 and 2, the frequencies of children experiencing solicited injection-site reactions (post-dose 1: erythema 14.31%; swelling 5.57% and pain 10.31%; post-dose 2[ncbi.nlm.nih.gov] Product images Specifications Citations ( 2 ) Documents Resources Specifications Product Data Product Name Albumin(ALB) (NM_000477) Human Untagged Clone Symbol ALB Synonyms[origene.com] Each vial of 50 ml contains 10 g of human albumin. Each vial of 100 ml contains 20 g of human albumin.[drugs.com] Human albumin (ALB) may exert neuroprotection in SAH. However, current usage of ALB in SAH is not known.[ncbi.nlm.nih.gov]

    Missing: IVS6
  • Neuronal Ceroid Lipofuscinosis

    TPP-I activity in chorionic villi (CV) was less than 2% of the mean normal control level and g.1946A G and g.3670C T mutations were demonstrated, as in the two previously[ncbi.nlm.nih.gov] There is a lack of accepted safety for use under medical supervision. 2 Has a high potential for abuse.[drugs.com] In addition to novel mutations, three single nucleotide polymorphisms (SNPs), g3841C T (IVS6-10C T), g4066T C (IVS7 17T C), and g4090G C (IVS7 41G C), which flank exon 7 were[doi.org] LIQUOR / ALB SIERO 12,40 22 INDICE LIQUORALE IgG (LINK) 12,40 23 INDICE DI REIBER IgG 24,79 25 CARBAMAZEPINA CBZ 24,79 26 CARBAMAZEPINA LIBERA 24,79 27 CARBAMAZEPINA 10-11[documen.site]

  • Analbuminemia

    RESULTS: DNA sequencing revealed that the proband is homozygous, and both parents are heterozygous, for a novel G A transition at position c.1652 1, the first base of intron[ncbi.nlm.nih.gov] Damstra, LymphForsch 2012,16(2)75-78 Summary Breast cancer is the most common malignant disease in women.[dglymph.de] Abstract Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB).[ncbi.nlm.nih.gov] The proband was found to be homozygous for a previously unreported G A change at position c.1289 1, the first base of intron 10, which inactivates the strongly conserved GT[ncbi.nlm.nih.gov]

    Missing: IVS6
  • Amelogenesis Imperfecta

    GPR68 encodes a proton-sensing G-protein-coupled receptor with sensitivity in the pH range that occurs in the developing enamel matrix during amelogenesis.[ncbi.nlm.nih.gov] Génétique Médicale, INSERM U1112, Institut de Génétique Médicale d'Alsace, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France. 2[ncbi.nlm.nih.gov] (A) Pedigree of the kindred with the (g.30 561A T; c.954-2A T or IVS6-2A T) mutation.[doi.org] The albumin ALB , ameloblastin AMBN and enamelin ENAM genes all map to the same region and are therefore candidate genes for autosomal AI.[ncbi.nlm.nih.gov]