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4,438 Possible Causes for Exonic, Mutation, Synonymous

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Name Hereditary Hypophosphatemic Rickets With Hypercalciuria Synonyms - Classification bone, developmental, endocrine, genetic, renal Phenotypes Bone pain ; Hypercalciuria[] […] in exon 13 c.1402C T (p.R468W).[] Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225-50del) and a novel splice mutation (g.1226G A)[]

  • X-Linked Alport Syndrome

    CONCLUSIONS: This is the first report of a synonymous COL4A5 substitution being responsible for XLAS.[] Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients.[] Abstract We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5 . Patient 1 was a 2-year-old Japanese girl.[]

  • Analbuminemia

    You will find that it is the most complete online bilingual and bidirectional English-Spanish dictionary on the web, showing not only direct translations but synonyms, complete[] In an in vitro assay on the RNA transcript this mutation causes a defect in splicing of the intron 6 sequence and in subsequent ligation of the exon 6-exon 7 sequences.[] It is an allelic heterogeneous defect, caused by a variety of mutations within the albumin gene.[]

  • Denys Drash Syndrome

    Svenska synonymer Drash syndrom Engelska synonymer Denys Drash Syndrome — Syndrome, Denys-Drash — Pseudohermaphroditism, Nephron Disorder and Wilms' — Tumor — Nephropathy,[] These mutations occur de novo and are clustered around the zinc finger (ZF) coding exons of the WT1 gene.[] Edit article Share article View revision history Article information rID: 8153 Systems: Oncology , Urogenital , Paediatrics Section: Syndromes Tags: stub , cases , syndrome Synonyms[]

  • Multiple Endocrine Neoplasia Type 2A

    Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 2003 ; 12 : 205 –16. View Abstract[] Mutations in exons 10 or 11 have been identified in more than 96% of patients with MEN 2A.[] […] was associated with a more aggressive MEN2A phenotype than the C634Y mutation. 2015 European Society of Endocrinology.[]

  • Leydig Cell Hypoplasia

    Homepage Rare diseases Search Search for a rare disease Leydig cell hypoplasia ORPHA:755 Synonym(s): 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing[] Compound heterozygous mutations in exon 6A (c.580 A G) and exon 11 (c.1244T C) were identified in the LHCGR of a male 46,XY patient with genital malformation.[] Finally, in one compound heterozygous patient, two different mutations were discovered.[]

  • Complete Androgen Insensitivity Syndrome

    In conclusion, we described the first synonymous AR mutation associated with CAIS phenotype, reinforcing the disease-causing role of synonymous mutations.[] MAIN OUTCOME MEASURE(S): Prevalence of AR exon 1 mutations.[] The results of the mutational analysis for the AR showed the presence of the R855H mutation; her mother was found to be heterozygous and both her 46,XX sister and her aunt[]

  • Congenital Contractural Arachnodactyly

    : Synonyms: Q87.43: Congenital contractural arachnodactyly Other Synonyms of the Category: Beal's syndrome Beals syndrome CCA - Congenital contractural arachnodactyly Congenital[] exon 25).[] It is now known that mutations in the gene encoding fibrillin-2 cause CCA.[]

  • Influenza

    […] in both M1 and M2 (synonymoussynonymous sites) and that of synonymous–nonsynonymous sites, respectively, and C SS and C SN the numbers of corresponding substitutions.[] Variability in the length of the second exon of M1 observed between the two viruses adds to the novelty of the C/OK virus.[] […] site/48 h  8,760 h 2.6 10 3 mutations/site/year and 0.4 10 5 mutations/site/71 h 8,760 h 0.5 10 3 mutations/site/year, respectively.[]

  • Becker Muscular Dystrophy

    Test Name Becker Muscular Dystrophy: DMD Sequencing Alternate Name/ Synonym BMD DMD-associated dilated cardiomyopathy Gene Name DMD Alternate Gene Name BMD Test Code BMD Division[] The mild phenotype encourages further development of exon 51 skipping therapy. Copyright 2010 Elsevier B.V. All rights reserved.[] Genetic analyses revealed a non-sense mutation in exon 2 of the dystrophin gene.[]