Human Mutation: Vol 32, No 10

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Human Mutation

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Non-Canonical DNA Structures in Genomic DNA and Their Role in Predisposition to Mutations

Digenic Inheritance in Axenfeld Rieger Syndrome

Rare disease registries and mutation/variation databases

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease ^†

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations ^†

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort ^†

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome ^†

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction ^†

A cis-acting regulatory variation of the estrogen receptor α (ESR1) gene is associated with hepatitis B virus-related liver cirrhosis ^†

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease ^†

Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity ^†

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy ^†

Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome ^†

New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects ^†

Prediction of functional regulatory SNPs in monogenic and complex disease ^†

A Severe Form of Abetalipoproteinemia Caused by New Splicing Mutations of Microsomal Triglyceride Transfer Protein

This article corrects the following:

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)

DRUMS: A human disease related unique gene mutation search engine ^†

Disrupted posttranscriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5′UTR mutation is associated with a cftr-related disease ^†

Temperature and pharmacological rescue of a folding-defective, dominantl-negative K_V7.2 mutation associated with neonatal seizures ^†

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Non-Canonical DNA Structures in Genomic DNA and Their Role in Predisposition to Mutations

Digenic Inheritance in Axenfeld Rieger Syndrome

Rare disease registries and mutation/variation databases

A Severe Form of Abetalipoproteinemia Caused by New Splicing Mutations of Microsomal Triglyceride Transfer Protein

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)

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