Diagnosis and genetics of Marfan syndrome

Expert Opinion on Orphan Drugs

Volumn 2, Issue 10, 2014, Pages 1049-1062

  Franken, Romy ^a,b   Heesterbeek, Thomas J ^a   De Waard, Vivian ^a   Zwinderman, Aeilko H ^a   Pals, Gerard ^c   Mulder, Barbara Jm ^a,b   Groenink, Maarten ^a,b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Aortic root dilatation; Clinical features; Fibrillin 1; Genotype; Marfan syndrome; Mutation; Phenotype

Indexed keywords

CYSTEINE; DNA;

BONE DISEASE; CARDIOVASCULAR DISEASE; CLINICAL FEATURE; DNA CONTENT; ECTOPIA LENTIS; EXON SKIPPING; FBN1 GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HISTORY OF MEDICINE; HOMOZYGOTE; HUMAN; INDEL MUTATION; INTRON; INTRON MUTATION; MARFAN SYNDROME; MEDICAL GENETICS; MISSENSE MUTATION; PREMATURE TERMINATION CODON MUTATION; PREVALENCE; PROGNOSIS; REVIEW; STOP CODON;

EID: 84911469439     PISSN: None     EISSN: 21678707     Source Type: Journal    
DOI: 10.1517/21678707.2014.950223     Document Type: Review

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