Neurofibromatosis type 1 (NF1): A protein truncation assay yielding identification of mutations in 73% of patients

Journal of Medical Genetics

Volumn 35, Issue 10, 1998, Pages 813-820

  Park, Vicki Murtif ^a   Pivnick, Enikö Kármán ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

Exon skipping; Hypertelorism; Neurofibromatosis type 1; Protein truncation

Indexed keywords

COMPLEMENTARY DNA; NEUROFIBROMIN;

ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; GENE MUTATION; GENOTYPE; HUMAN; HYPERTELORISM; NEUROFIBROMATOSIS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DETERMINATION; TUMOR SUPPRESSOR GENE;

EID: 0031657522     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.10.813     Document Type: Article

References (13)

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