The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Human mutation

Volumn 28, Issue 9, 2007, Pages 928-

  Comeglio, Paolo ^a   Johnson, Philip ^a   Arno, Gavin ^a   Brice, Glen ^a   Evans, Alison ^a   Aragon Martin, José ^a   da Silva, Filipe Pereira ^a   Kiotsekoglou, Anatoli ^a   Child, Anne ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CHILD; CLASSIFICATION; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; INFANT; MARFAN SYNDROME; MIDDLE AGED; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PREGNANCY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 34848816232     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9505     Document Type: Article

References (0)