Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

Human Mutation

Volumn 20, Issue 2, 2002, Pages 98-109

  Terp, Bent N ^a   Cooper, David N ^a   Christensen, Inge T ^b   Jørgensen, Flemming S ^c   Bross, Peter ^d   Gregersen, Niels ^d   Krawczak, Michael ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b NOVO NORDISK A S   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d Institute of Experimental Clinical Research   (Denmark)

Author keywords

ARSA; AT3; Biophysical properties; Clinical detection; Genotype phenotype; Missense mutation; Molecular epidemiology; p53; PAH; PROC; SERPINC1; TP53; TTR

Indexed keywords

ANTITHROMBIN III; CEREBROSIDE SULFATASE; PHENYLALANINE 4 MONOOXYGENASE; PREALBUMIN; PROTEIN C;

AMINO ACID SUBSTITUTION; ARTICLE; BIOPHYSICS; CRYSTALLOGRAPHY; DATA BASE; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE;

AMINO ACID SUBSTITUTION; AMYLOID NEUROPATHIES, FAMILIAL; ANTITHROMBIN III; ANTITHROMBIN III DEFICIENCY; ARYLSULFATASES; BIOPHYSICS; DATABASES, GENETIC; DATABASES, PROTEIN; GENETIC DISEASES, INBORN; GENOTYPE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MODELS, GENETIC; MUTATION, MISSENSE; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PREALBUMIN; PROTEIN C; PROTEIN C DEFICIENCY; PROTEIN STRUCTURE, SECONDARY;

EID: 0036321534     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10095     Document Type: Article

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