Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome

Clinical Genetics

Volumn 77, Issue 5, 2010, Pages 453-463

  Chao, S C ^a   Chen, J S ^b   Tsai, C H ^a   Lin, J Y M ^b   Lin, Y J ^a   Sun, H S ^a  

^a NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

Author keywords

Alternative splicing; ERAD; Exonic point mutation; NMFS; PTC

Indexed keywords

FIBRILLIN 1;

AMINO ACID SUBSTITUTION; AORTA ROOT; AUTOPSY; CARDIOMEGALY; CASE REPORT; CODON; ECHOCARDIOGRAPHY; ENDOPLASMIC RETICULUM; EXON; EXTRACELLULAR MATRIX; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GESTATIONAL AGE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LUNG HYPOPLASIA; MARFAN SYNDROME; MISSENSE MUTATION; MOLECULAR DYNAMICS; NEWBORN; NOTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PURIFICATION; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; SYMPTOMATOLOGY;

BASE SEQUENCE; BLOTTING, WESTERN; CELL LINE; CODON, NONSENSE; ENDOPLASMIC RETICULUM; EXONS; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; INTRACELLULAR SPACE; LEUPEPTINS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; NUCLEOTIDES; PREGNANCY; PROTEIN PROCESSING, POST-TRANSLATIONAL; RNA SPLICE SITES; RNA SPLICING; RNA STABILITY;

EID: 77953077337     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01337.x     Document Type: Note

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