Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders

Human Mutation

Volumn 27, Issue 8, 2006, Pages 760-769

  Mátyás, Gábor ^a   Arnold, Eliane ^b   Carrel, Thierry ^c   Baumgartner, Daniela ^d   Boileau, Catherine ^e,f   Berger, Wolfgang ^a   Steinmann, Beat ^b  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c BERN UNIVERSITY HOSPITAL   (Switzerland)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

FBN1; Marfan syndrome; TGFBR1; TGFBR2; Transforming growth factor beta

Indexed keywords

FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

AMINO ACID SUBSTITUTION; AORTA ANEURYSM; ARTICLE; ATHEROSCLEROSIS; CANCER; COMPUTER MODEL; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FAMILIAL DISEASE; FAMILIAL THORACIC AORTIC ANEURYSMS AND DISSECTIONS; FBN1 GENE; GENE; GENE MUTATION; GENETIC CONSERVATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LOEYS DIETZ SYNDROME; MAJOR CLINICAL STUDY; MARFAN SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; STATISTICAL ANALYSIS; STRUCTURE ANALYSIS; TGFBR1 GENE; TGFBR2 GENE;

ACTIVIN RECEPTORS, TYPE I; ALLELES; AMINO ACID SEQUENCE; ANEURYSM, DISSECTING; AORTIC ANEURYSM, THORACIC; COHORT STUDIES; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SEQUENCE ALIGNMENT; STRUCTURAL HOMOLOGY, PROTEIN; SYNDROME;

EID: 33747016789     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20353     Document Type: Article

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