Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

Human Mutation

Volumn 14, Issue 5, 1999, Pages 428-432

  Bénit, Paule ^a   Kara Mostefa, Ali ^a   Hadj Rabia, Smail ^a   Munnich, Arnold ^a   Bonnefont, Jean Paul ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Hamartin; Mutation screen; Protein truncation test; PTT; Truncating protein; TSC1; Tuberous sclerosis

Indexed keywords

MUTANT PROTEIN;

ARTICLE; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; TECHNIQUE; TUBEROUS SCLEROSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; FEMALE; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 2542509751     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5     Document Type: Article

References (11)

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