Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome

Journal of Medical Genetics

Volumn 33, Issue 9, 1996, Pages 760-763

  Wang, Mei ^a   Kishnani, Priya ^b   Decker Phillips, Martha ^b   Kahler, Stephen G ^b   Chen, Yuan Tsong ^b   Godfrey, Maurice ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Fibrillin; Marfan syndrome; Mutation

Indexed keywords

FIBRILLIN; MESSENGER RNA;

AMINO ACID SUBSTITUTION; AORTA ROOT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGESTIVE HEART FAILURE; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MARFAN SYNDROME; MITRAL VALVE; NEWBORN; NUCLEIC ACID BASE SUBSTITUTION; PLEIOTROPY; PRIORITY JOURNAL; TRICUSPID VALVE;

EID: 0029748318     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.760     Document Type: Article

References (13)

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