about
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan originMutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8Lesion processing by a repair enzyme is severely curtailed by residues needed to prevent aberrant activity on undamaged DNAMolecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceWhy is CpG suppressed in the genomes of virtually all small eukaryotic viruses but not in those of large eukaryotic viruses?Severe arrhythmia disorder caused by cardiac L-type calcium channel mutationsNonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical featuresFamilial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor geneMutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiencyThe genetic basis of Weber-Cockayne epidermolysis bullosa simplexMolecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferaseDe novo mutations in ATP1A3 cause alternating hemiplegia of childhoodIdentification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1aGenetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severityThe DNA (cytosine-5) methyltransferasesRett syndrome and MeCP2: linking epigenetics and neuronal functionMolecular genetics of steroid 5 alpha-reductase 2 deficiencyAnalysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeMutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientGFAP and its role in Alexander diseaseToward unraveling the complexity of simple epithelial keratins in human diseaseMolecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiencySix novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individualsGenetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locusHyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthaseIdentification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cellsOccurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite populationMolecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferaseMultiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical originsFunctionality or transcriptional noise? Evidence for selection within long noncoding RNAsThe amino-acid mutational spectrum of human genetic diseaseT:G mismatch-specific thymine-DNA glycosylase (TDG) as a coregulator of transcription interacts with SRC1 family members through a novel tyrosine repeat motif.Mutational hotspots in the TP53 gene and, possibly, other tumor suppressors evolve by positive selection.Breaking bad: The mutagenic effect of DNA repairAnalysis of protein-coding genetic variation in 60,706 humansDNA methylation in mammalsDefining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermathEpigenetic regulation of hematopoietic stem cell aging
P2860
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P2860
description
1988 nî lūn-bûn
@nan
1988 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
The CpG dinucleotide and human genetic disease
@ast
The CpG dinucleotide and human genetic disease
@en
The CpG dinucleotide and human genetic disease
@nl
type
label
The CpG dinucleotide and human genetic disease
@ast
The CpG dinucleotide and human genetic disease
@en
The CpG dinucleotide and human genetic disease
@nl
prefLabel
The CpG dinucleotide and human genetic disease
@ast
The CpG dinucleotide and human genetic disease
@en
The CpG dinucleotide and human genetic disease
@nl
P3181
P356
P1433
P1476
The CpG dinucleotide and human genetic disease
@en
P2093
D N Cooper
H Youssoufian
P2888
P3181
P356
10.1007/BF00278187
P407
P577
1988-02-01T00:00:00Z
P6179
1006524116