A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.
about
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FTargeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndromeHomozygosity mapping of the Achromatopsia locus in the PingelapeseMild Campomelic Dysplasia: Report on a Case and ReviewA mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresisIdentification of point mutations in 41 unrelated patients affected with Menkes diseasePolymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian populationAssociation of Nuclear Factor-Erythroid 2-Related Factor 2, Thioredoxin Interacting Protein, and Heme Oxygenase-1 Gene Polymorphisms with Diabetes and Obesity in Mexican PatientsMissense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesisA novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysemaAutosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.A new locus for autosomal recessive congenital cataract identified in a Pakistani family.Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.Human mitochondrial DNA sequence variation in the Moroccan population of the Souss area.Mismatch repair by efficient nick-directed, and less efficient mismatch-specific, mechanisms in homologous recombination intermediates in Chinese hamster ovary cells.DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from PakistanDFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.
P2860
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P2860
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.
@en
type
label
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.
@en
prefLabel
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.
@en
P2093
P356
P1476
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.
@en
P2093
P2860
P356
10.1093/NAR/17.20.8390
P577
1989-10-01T00:00:00Z