Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan

Journal of Human Genetics

Volumn 48, Issue 10, 2003, Pages 545-549

  Liu, Ming Tzen ^a,b   Su, Jih Shyun ^a   Huang, Chun Yu ^b   Tsai, Shih Feng ^a,c  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

Author keywords

Deletion; Gene; Mutation; Neurofibromatosis type 1; Transcript analysis

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; NEUROFIBROMIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DELETION MUTANT; DIAGNOSTIC APPROACH ROUTE; DNA DETERMINATION; DNA SEQUENCE; DNA SPLICING; DNA TEMPLATE; EXON; GENE; GENE DELETION; HUMAN; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; NEUROFIBROMIN GENE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TAIWAN;

DNA MUTATIONAL ANALYSIS; GENES, NEUROFIBROMATOSIS 1; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NEUROFIBROMATOSIS 1; SEQUENCE DELETION; TAIWAN;

EID: 0345304423     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0066-7     Document Type: Article

References (9)

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