BRCA1 IVS16+6T → C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site

American Journal of Medical Genetics

Volumn 85, Issue 2, 1999, Pages 113-116

  Scholl, Thomas ^a   Pyne, Michael T ^a   Russo, Donna ^b   Ward, Brian E ^a  

^a Myriad Genetic Laboratories   (United States)

^b New York Presbyterian Hospital Columbia University Medical Center   (United States)

Author keywords

BRCA1; Mutation; RNA; Splice

Indexed keywords

RNA;

ADULT; ARTICLE; BREAST CANCER; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE ACTIVATION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MALE; MONONUCLEAR CELL; ONCOGENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON;

ADULT; BASE SEQUENCE; BRCA1 PROTEIN; BREAST NEOPLASMS; CARCINOMA, MEDULLARY; FEMALE; GENE DELETION; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; RNA SPLICING; VARIATION (GENETICS);

EID: 0033026614     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990716)85:2<113::AID-AJMG3>3.0.CO;2-V     Document Type: Article

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