Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 1968-1977

  Rand Hendriksen, Svend ^a   Tjeldhorn, Lena ^b   Lundby, Rigmor ^c,d   Semb, Svein Ove ^b   Offstad, Jon ^d   Andersen, Kai ^d   Geiran, Odd ^c,d   Paus, Benedicte ^b  

^a SUNNAAS REHABILITATION HOSPITAL   (Norway)

^b ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF OSLO   (Norway)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

FBN1; Genotype phenotype correlation; Marfan syndrome

Indexed keywords

TRANSFORMING GROWTH FACTOR;

ADULT; AGED; ARTICLE; EPIGENETICS; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC CORRELATION; GENETIC COUNSELING; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MISSENSE MUTATION; NORWAY; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RNA SPLICING; CARBOXY TERMINAL SEQUENCE; CORRELATION ANALYSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; FBN1 GENE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; INTRON; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PREDICTION; PROGNOSIS; SEQUENCE ANALYSIS;

ADULT; AGED; FEMALE; GENOTYPE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; NORWAY; PHENOTYPE; PREDICTIVE VALUE OF TESTS; VARIATION (GENETICS);

EID: 34548297815     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31759     Document Type: Article

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