Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts

American Journal of Human Genetics

Volumn 60, Issue 4, 1997, Pages 818-827

  Putnam, Elizabeth A ^a   Park, Eun Sook ^a   Aalfs, Cora M ^c   Hennekam, Raoul C M ^c   Milewicz, Dianna M ^a,b  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b TEXAS HEART INSTITUTE   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARACHNODACTYLY; ARTICLE; CHROMOSOME MOSAICISM; DNA DETERMINATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC TRANSCRIPTION; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SKIN FIBROBLAST; SOMATIC CELL;

ALLELES; CALCIUM-BINDING PROTEINS; DINUCLEOTIDE REPEATS; EPIDERMAL GROWTH FACTOR; FEMALE; FIBROBLASTS; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOSAICISM; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 0030903774     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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