Deep intronic mutations and human disease

Human Genetics

Volumn 136, Issue 9, 2017, Pages 1093-1111

  Vaz Drago, Rita ^a   Custódio, Noélia ^a   Carmo Fonseca, Maria ^a  

^a INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; MESSENGER RNA; MESSENGER RNA PRECURSOR; MICRORNA; RIBOSOME PROTEIN; RNA ISOFORM; SMALL NUCLEOLAR RNA; SPACER DNA; UNTRANSLATED RNA; DNA;

ALPORT SYNDROME; ALTERNATIVE RNA SPLICING; ATAXIA TELANGIECTASIA; BECKER MUSCULAR DYSTROPHY; BREAST CANCER; COMPLETE ANDROGEN INSENSITIVITY SYNDROME; CONSERVED SEQUENCE; DEEP INTRONIC MUTATION; DUCHENNE MUSCULAR DYSTROPHY; ENHANCER REGION; EXON; FABRY DISEASE; FAMILIAL ADENOMATOUS POLYPOSIS; GENE MUTATION; GENE REARRANGEMENT; GENETIC DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HEREDITARY TUMOR SYNDROME; HUMAN; INTRON; INTRON RETENTION; LARON SYNDROME; MELANOMA; NEUROFIBROMATOSIS; NEXT GENERATION SEQUENCING; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; PROMOTER REGION; RETINOBLASTOMA; REVIEW; RNA ANALYSIS; RNA PROCESSING; TRANSCRIPTION INITIATION; WHOLE GENOME SEQUENCING; GENETICS; METABOLISM; MUTATION; TUMOR GENE;

DNA, NEOPLASM; GENES, NEOPLASM; HUMANS; INTRONS; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY;

EID: 85019143016     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-017-1809-4     Document Type: Review

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