An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian aboriginal family [5]

Clinical Genetics

Volumn 65, Issue 1, 2004, Pages 66-69

  Summers, K M ^a   Xu, D ^b   West, J A ^b   McGill, J J ^b   Galbraith, A ^b   Whight, C M ^b   Brocque, S L ^b   Nataatmadja, M ^b   Kong, L K ^b   Dondey, J ^b   Stark, D ^b   West, M J ^b  

^a THE PRINCE CHARLES HOSPITAL   (Australia)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1;

ABORIGINE; AUSTRALIA; CONTROLLED STUDY; DNA EXTRACTION; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC VARIABILITY; HUMAN; IMMUNOHISTOCHEMISTRY; LETTER; MAJOR CLINICAL STUDY; MARFAN SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PUNCH BIOPSY; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AORTA; CHILD; DILATATION, PATHOLOGIC; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MICROSATELLITE REPEATS; MIDDLE AGED; OCEANIC ANCESTRY GROUP; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 1642477807     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j..2004.00186.x     Document Type: Letter

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