An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family

Kim Summers; D Xu; J A West; J J McGill; A Galbraith; C M Whight; S L Brocque; M Nataatmadja; L K Kong; J Dondey; D Stark; M J West

doi:10.1111/j..2004.00186.x

An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family

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

Royal (Dick) School of Veterinary Studies

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	66-9
Number of pages	4
Journal	Clinical genetics
Volume	65
Issue number	1
DOIs	https://doi.org/10.1111/j..2004.00186.x
Publication status	Published - 2004

Keywords / Materials (for Non-textual outputs)

Adolescent
Adult
Aged
Aorta
Child
DNA Mutational Analysis
Dilatation, Pathologic
Exons
Female
Genetic Counseling
Genetic Predisposition to Disease
Genetic Testing
Humans
Immunohistochemistry
Male
Marfan Syndrome
Microfilament Proteins
Microsatellite Repeats
Middle Aged
Oceanic Ancestry Group
Pedigree
Point Mutation
Polymerase Chain Reaction

Access to Document

10.1111/j..2004.00186.x

Cite this

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title = "An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family",

keywords = "Adolescent, Adult, Aged, Aorta, Child, DNA Mutational Analysis, Dilatation, Pathologic, Exons, Female, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Humans, Immunohistochemistry, Male, Marfan Syndrome, Microfilament Proteins, Microsatellite Repeats, Middle Aged, Oceanic Ancestry Group, Pedigree, Point Mutation, Polymerase Chain Reaction",

author = "Kim Summers and D Xu and West, {J A} and McGill, {J J} and A Galbraith and Whight, {C M} and Brocque, {S L} and M Nataatmadja and Kong, {L K} and J Dondey and D Stark and West, {M J}",

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doi = "10.1111/j..2004.00186.x",

language = "English",

volume = "65",

pages = "66--9",

journal = "Clinical genetics",

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T1 - An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family

AU - Summers, Kim

AU - Xu, D

AU - West, J A

AU - McGill, J J

AU - Galbraith, A

AU - Whight, C M

AU - Brocque, S L

AU - Nataatmadja, M

AU - Kong, L K

AU - Dondey, J

AU - Stark, D

AU - West, M J

PY - 2004

Y1 - 2004

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KW - Adult

KW - Aged

KW - Aorta

KW - Child

KW - DNA Mutational Analysis

KW - Dilatation, Pathologic

KW - Exons

KW - Female

KW - Genetic Counseling

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Humans

KW - Immunohistochemistry

KW - Male

KW - Marfan Syndrome

KW - Microfilament Proteins

KW - Microsatellite Repeats

KW - Middle Aged

KW - Oceanic Ancestry Group

KW - Pedigree

KW - Point Mutation

KW - Polymerase Chain Reaction

U2 - 10.1111/j..2004.00186.x

DO - 10.1111/j..2004.00186.x

M3 - Article

C2 - 15032979

SN - 0009-9163

VL - 65

SP - 66

EP - 69

JO - Clinical genetics

JF - Clinical genetics

IS - 1

ER -