Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in marfan syndrome and related connective tissue disorders

Genetic Testing

Volumn 1, Issue 4, 1998, Pages 237-242

  Liu, Wangu O ^a,b   Oefner, Peter J ^a   Qian, Chiping ^a,b   Odom, Ranaan S ^a   Francke, Uta ^a,c  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b MAYO CLINIC   (United States)

^c STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

ARTICLE; CONNECTIVE TISSUE DISEASE; EVALUATION; EXON; FRAMESHIFT MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; HETERODUPLEX ANALYSIS; HETEROZYGOTE DETECTION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTRON; MARFAN SYNDROME; METHODOLOGY; MUTATION; NUCLEIC ACID HYBRIDIZATION; NUCLEOTIDE SEQUENCE; POINT MUTATION;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONNECTIVE TISSUE DISEASES; DNA MUTATIONAL ANALYSIS; EVALUATION STUDIES; EXONS; FRAMESHIFT MUTATION; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HETEROZYGOTE DETECTION; HUMANS; INTRONS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; NUCLEIC ACID HYBRIDIZATION; POINT MUTATION; POLYMORPHISM, GENETIC;

EID: 0031292158     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1997.1.237     Document Type: Article

References (21)

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