Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes

American Journal of Human Genetics

Volumn 71, Issue 2, 2002, Pages 223-237

  Schrijver, Iris ^a   Liu, Wanguo ^a   Odom, Raanan ^a   Brenn, Thomas ^b   Oefner, Peter ^b   Furthmayr, Heinz ^c   Francke, Uta ^a,b  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; EXTRACELLULAR MATRIX; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; MALE; MARFAN SYNDROME; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN FAMILY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

EID: 0036071270     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341581     Document Type: Article

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