[PDF] Top 20 Erythrocytosis associated with a novel missense mutation in the BPGM gene
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Erythrocytosis associated with a novel missense mutation in the BPGM gene
... for the rapid dissemination of ...for the authors' final approval; the final version of the manuscript will then appear in print on a regular issue of the ...to the ... See full document
11
Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene
... relieved with surgery. A few months later he complained of neuralgic pain in both legs and feet, followed 1 year later by sexual impotence and urinary retention with vesical large ...improvement. ... See full document
7
ß-Spectrin São PauloII, a novel frameshift mutation of the ß-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA
... ß-spectrin gene mutations. a, Non-radioac- tive SSCP showing a band shift in the amplification product of exon 20 of patient RS compared with control ...RS. The se- quence in ... See full document
5
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
... of the reported mutations in the ARSA gene are missense ...also the most common types in Japanese MLD patients (Hayashi et ...However, the most common ... See full document
4
Novel gene PUS3 c.A212G mutation in Ukrainian family with intellectual disability
... between the reduced growth rate of E. coli or S. typhimurium and the ab- sence of pseudouridines 38–40 in anticodon stem– loop of several tRNAs was reported more than two decades ago ...[33]. ... See full document
8
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
... presenting with cold-induced urticaria, recurrent sinopulmonary infections, antibody deficiency, and autoimmunity, were found to have heterozygous in-frame deletions affecting the PLCG2 gene, ... See full document
8
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome
... collected in the Human Gene Mutation Database, including 269 missense/nonsense, 58 splicing, 47 small deletions, 22 small insertions, five small indels, 22 gross deletions, four gross ... See full document
6
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
... from the consanguineous Family 1 (Figure 1) at an average depth of 78x using a TruSeq Exome 62Mb Enrichment kit and HiSeq2000 sequencer ...(c.716G>A) in GJA1 (RefSeq NM_000165.3) (Figure 2), which was ... See full document
7
Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.
... characterized. In mice, SPINT2 contributes to the appropriate development of the embryo as indicated by SPINT2 knockout embryos showing clefting of the embryonic ectoderm, neural tube defects ... See full document
12
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis.
... is the self-mutilating behavior that leads to facial and oral soft tissues lesions and premature tooth ...that the NTRK1 mutations may affect not only innervation but the development of oro-facial ... See full document
10
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.
... For the molecular diagnosis of this pedigree, the FRMD7 gene (candidate gene for congenital nystagmus) and GPR143 gene (candidate gene for OA1) were ...analyzed. The ... See full document
6
A novel frameshift mutation of the IKBKG gene causing typical incontinentia pigmenti
... exclusively in females and is usually lethal in utero for males [1]. The IKBKG (inhibitor of kappa-B kinase gamma, previously NEMO) gene is the only gene known to be ... See full document
3
Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family
... found in ENG are heterozygous, a review of mutations causing HHT1 identified that most mutations were frameshift deletions ...truncating the protein (Abdalla and Letarte, ...that the truncated ... See full document
4
A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
... birth, the girl developed respiratory distress with intercostal ...consistent with mild ...46,XX. The girl was intubated with ventilatory ...ventilator- associated pneumonia, she ... See full document
4
Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene
... triggered in susceptible individuals by the administration of volatile halogenated anesthetics and/or succinylcholine, leading to the development of a hypermetabolic crisis, which is caused by ... See full document
8
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese
... been associated with various ...by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability ...(ID). ... See full document
6
A novel mutation in CLCN1 associated with feline myotonia congenita.
... alteration in CLCN1 is predicted to cause a lack of 116 amino acids in the protein, from position 557 to position ...643. The alteration deletes part of the first CBS domain ...within ... See full document
11
A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family
... Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many ...a novel point mutation in GJB2 , p.L76P ... See full document
4
Functional characterization of a CRH missense mutation identified in an ADNFLE family.
... mutations in subunits of the neuronal nicotinic acetylcholine receptor or in a recently reported potassium ...and the existence of at least a new locus for the disease has been ... See full document
7
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
... acids. The functional GATA4 protein comprises of two independent transcriptional activation domains (TAD) required for transcriptional activity, two highly conserved zinc fin- ger domains (ZnF) essential for DNA ... See full document
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