NF1 mutation analysis using a combined heteroduplex/SSCP approach

Human Mutation

Volumn 9, Issue 6, 1997, Pages 548-554

  Abernathy, Corinne R ^a   Rasmussen, Sonja A ^a   Stalker, Heather J ^a   Zori, Roberto ^a   Driscoll, Daniel ^a   Williams, Charles A ^a   Kousseff, Boris G ^b   Wallace, Margaret R ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Heteroduplex analysis; Mutation; Neurofibromatosis; Neurofibromin; NF1; SSCP

Indexed keywords

HETERODUPLEX;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAFE AU LAIT SPOT; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NEUROFIBROMA; NEUROFIBROMATOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; GENES, NEUROFIBROMATOSIS 1; GENOTYPE; HUMANS; NEUROFIBROMATOSIS 1; NUCLEIC ACID HETERODUPLEXES; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 0030906364     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:6<548::AID-HUMU8>3.0.CO;2-Y     Document Type: Article

References (9)

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