Concepedia

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype–phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden

Miguel Luz Soares, Teresa Coelho, Alda Sousa, Gösta Holmgren, Maria João Saraiva, Daniel L. Kastner, Joel N. Buxbaum

European Journal of Human Genetics · 2003 · 62 citations · 20 references

Open access

Concepts

Genetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic EpidemiologyHuman PolymorphismPathologyNeurologyDisease Gene IdentificationTransthyretin GeneMedicineFamilial Amyloid PolyneuropathyClinical Genetics

References

20

The history and geography of human genes

Choice Reviews Online · 1995 · 1.3K citations

Human Variation, Genetics, Human Genes +4

A PECULIAR FORM OF PERIPHERAL NEUROPATHY

Corino Andrade · Brain · 1952 · 1.1K citations

Peripheral Nerve Injury, Neurological Disorder, Clinical Neurology +21

The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 940 citations

Genetic Diseases, Genetic Disorder, Genetics +5

NOTE ON AN EXACT TREATMENT OF CONTINGENCY, GOODNESS OF FIT AND OTHER PROBLEMS OF SIGNIFICANCE

G. H. Freeman, John H. Halton · Biometrika · 1951 · 856 citations

Reliability, Quantitative Psychology, Behavioral Sciences +10

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

David J.P. Barker, Markus Schäfer, R. White · Cell · 1984 · 582 citations

Genetic Analysis, Allelic Variant, Human Dna +8