Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1

Journal of Korean Medical Science

Volumn 15, Issue 5, 2000, Pages 542-544

  Park, Kyoung Chan ^a,b   Choi, Hyun Ok ^a,b   Han, Won Suk ^a,b   Hwang, Ji Hwan ^b   Park, Ki Ho ^b   Kim, Kyu Han ^a   Chung, Jin Ho ^a   Eun, Hee Chul ^a  

^a Seoul National University   (South Korea)

^b Seoul National University Hospital   (South Korea)

Author keywords

Mutation; Neurofibromatosis 1; Neurofibromin; Premature Termination

Indexed keywords

NERVE PROTEIN; NEUROFIBROMIN;

ADULT; ARTICLE; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENETICS; HUMAN; KOREA; MIDDLE AGED; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HUMANS; KOREA; MIDDLE AGED; NERVE TISSUE PROTEINS; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0034302891     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2000.15.5.542     Document Type: Article

References (10)

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