Molecular analysis of eight mutations in FBN1

Human Genetics

Volumn 105, Issue 6, 1999, Pages 587-597

  Halliday, D ^a   Hutchinson, S ^c   Kettle, S ^c   Firth, H ^b   Wordsworth, P ^a   Handford, P A ^c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; FIBRILLIN; GLYCOPROTEIN; TRANSFORMING GROWTH FACTOR BETA1;

ARTICLE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DELETION MUTANT; ELECTRON MICROSCOPY; FIBROBLAST; FRAMESHIFT MUTATION; GENE INSERTION SEQUENCE; GLYCOPROTEIN SYNTHESIS; HETERODUPLEX ANALYSIS; HUMAN; IMMUNOFLUORESCENCE; MARFAN SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; PRIORITY JOURNAL;

ADULT; CELLS, CULTURED; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; FRAMESHIFT MUTATION; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MICROSCOPY, ELECTRON; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0033401673     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051150     Document Type: Article

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