A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 299-302

  Evangelisti, L ^a   Lucarini, L ^a   Attanasio, M ^a,b   Lapini, I ^a   Giusti, B ^a,b   Porciani, C ^a,b   Gensini, G F ^a,b,c   Abbate, R ^a,b   Pepe, G ^a,b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b CAREGGI UNIVERSITY HOSPITAL   (Italy)

^c IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

Author keywords

Alternative splicing; FBN1 mutations; Fibrillin; Marfan syndrome

Indexed keywords

ASPARTIC ACID; DNA; FIBRILLIN 1; NUCLEOTIDE; RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; EXON; FEMALE; GENE MUTATION; HUMAN; INFORMED CONSENT; ITALY; MARFAN SYNDROME; MISSENSE MUTATION; REVERSE TRANSCRIPTION; RNA ANALYSIS; SKIN BIOPSY;

ADULT; AMINO ACID SUBSTITUTION; CHILD; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION, MISSENSE;

EID: 77956935084     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.06.002     Document Type: Article

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