An FBN1 pseudoexon mutation in a patient with Marfan syndrome: Confirmation of cryptic mutations leading to disease

Journal of Human Genetics

Volumn 53, Issue 11-12, 2008, Pages 1007-1011

  Guo, Dong Chuan ^a   Gupta, Prateek ^a   Tran Fadulu, Van ^a   Guidry, Tera V ^a   Leduc, Magalie S ^a   Schaefer, Frederick V ^b   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b Center for Genetic Testing at Saint Francis   (United States)

Author keywords

Cryptic mutation; FBN1; Marfan syndrome; Pseudoexon

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILD; DNA DETERMINATION; DNA SEQUENCE; EXON; FBN1 GENE; FEMALE; GENE; GENE IDENTIFICATION; GENE INSERTION; GENETIC ASSOCIATION; HUMAN; INTRON; MARFAN SYNDROME; MISSENSE MUTATION; MUTAGENESIS; POINT MUTATION; RNA SPLICING; SCHOOL CHILD; SKIN FIBROBLAST;

ADULT; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 57349109316     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0334-7     Document Type: Article

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