Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: A potential modifier of phenotype?

Human Molecular Genetics

Volumn 12, Issue 18, 2003, Pages 2269-2276

  Hutchinson, Sarah ^a   Furger, Andre ^a   Halliday, Dorothy ^a   Judge, Daniel P ^b   Jefferson, Andrew ^c   Dietz, Harry C ^b   Firth, Helen ^d   Handford, Penny A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN; MESSENGER RNA;

ARTICLE; CHROMOSOME 15Q; CONTROLLED STUDY; GENE DELETION; GENE EXPRESSION; GENETIC PROCEDURES; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; KARYOTYPE 46,XX; MARFAN SYNDROME; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RIBONUCLEASE PROTECTION ASSAY; RNA ANALYSIS; STOP CODON;

ALLELES; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 15; CODON, NONSENSE; FAMILY; FEMALE; FIBROBLASTS; GENE DELETION; GENE EXPRESSION; GENES, DOMINANT; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MICROSATELLITE REPEATS; PEDIGREE; PENETRANCE; PHENOTYPE; RNA, MESSENGER; SKIN; VARIATION (GENETICS);

EID: 0141702288     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg241     Document Type: Article

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