TY  - GEN
AU  - Comeglio,Paolo
AU  - Johnson,Philip
AU  - Arno,Gavin
AU  - Brice,Glen
AU  - Evans,Alison
AU  - Aragon-Martin,José
AU  - da Silva,Filipe Pereira
AU  - Kiotsekoglou,Anatoli
AU  - Child,Anne
TI  - The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations
SN  - 1098-1004
PY  - 2007///1002
KW  - Adolescent
KW  - Adult
KW  - Age Distribution
KW  - Aged
KW  - Aged, 80 and over
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibrillin-1
KW  - Fibrillins
KW  - Genetic Testing
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Marfan Syndrome
KW  - classification
KW  - Microfilament Proteins
KW  - genetics
KW  - Middle Aged
KW  - Mutation
KW  - Pregnancy
KW  - Prenatal Diagnosis
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/humu.9505
ER  -