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Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

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Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man

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The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis.

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Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

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Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

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A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

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Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

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Germline p16 mutations in familial melanoma

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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

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X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

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Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

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Sterol Resistance in CHO Cells Traced to Point Mutation in SREBP Cleavage–Activating Protein

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A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

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Molecular genetics of steroid 5 alpha-reductase 2 deficiency

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High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2αB gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21

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Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

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Activating mutations of N- and K-ras in multiple myeloma show different clinical associations: analysis of the Eastern Cooperative Oncology Group Phase III Trial

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APR-246 overcomes resistance to cisplatin and doxorubicin in ovarian cancer cells

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p53 Mutations in sporadic adrenocortical tumors

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Mutational analysis of patients with X-linked adrenoleukodystrophy

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SNPSTRs: Empirically Derived, Rapidly Typed, Autosomal Haplotypes for Inference of Population History and Mutational Processes

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Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.

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p53 protein accumulation and gene mutations in human glioma cell lines

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Strong synergy with APR-246 and DNA-damaging drugs in primary cancer cells from patients with TP53 mutant high-grade serous ovarian cancer

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Natural diversity of potato (Solanum tuberosum) invertases

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Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

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[123I]AM281 single-photon emission computed tomography imaging of central cannabinoid CB1 receptors before and after Δ9-tetrahydrocannabinol therapy and whole-body scanning for assessment of radiation dose in tourette patients

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Are PU.1 mutations frequent genetic events in acute myeloid leukemia (AML)?

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p53 gene mutations and expression of p53 and mdm2 proteins in invasive breast carcinoma: A comparative analysis with clinico-pathological factors

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Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity

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Polymorphisms of the human hexokinase II gene: lack of association with NIDDM and insulin resistance

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Early onset Alzheimer's disease in a South American pedigree from Argentina

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