A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

Human Genetics

Volumn 100, Issue 2, 1997, Pages 195-200

  Booms, Patrick ^a   Withers, Anne P ^b   Boxer, Maureen ^b   Kaufmann, Ursula C ^a   Hagemeier, Christian ^a   Vetter, Ulrich ^a   Robinson, Peter N ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ECTOPIA LENTIS; EXON; FEMALE; FIBROBLAST CULTURE; GEL ELECTROPHORESIS; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MARFAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECRETION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCOLIOSIS; SKIN FIBROBLAST;

ADOLESCENT; ADULT; CYSTEINE; EXONS; FEMALE; GENETIC SCREENING; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; TIME FACTORS;

EID: 0030853819     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050489     Document Type: Article

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