Intronic splicing mutations in PTCH1 cause Gorlin syndrome

Familial Cancer

Volumn 13, Issue 3, 2014, Pages 477-480

  Bholah, Zaynab ^a,b   Smith, Miriam J ^a,b   Byers, Helen J ^a,b   Miles, Emma K ^a,b   Evans, D Gareth ^a,b,c   Newman, William G ^a,b,c  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Deep intronic splicing mutations; Familial BCC; Gorlin syndrome; Nevoid basal cell carcinoma syndrome (NBCCS); PTCH1

Indexed keywords

COMPLEMENTARY DNA; DNA BASE; GENOMIC DNA; PROTEIN PATCHED 1; CELL SURFACE RECEPTOR; PATCHED RECEPTORS; RNA SPLICING;

ARTICLE; BASAL CELL NEVUS SYNDROME; BINDING SITE; CLINICAL ARTICLE; DNA SEQUENCE; DNA TRANSCRIPTION; EXON; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INTRON; LOSS OF FUNCTION MUTATION; LYMPHOCYTE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; RNA ANALYSIS; RNA SPLICING; STOP CODON; TUMOR SUPPRESSOR GENE; FEMALE; GENETICS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NUCLEOTIDE SEQUENCE;

BASAL CELL NEVUS SYNDROME; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTRONS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; RECEPTORS, CELL SURFACE; RNA SPLICE SITES; RNA SPLICING;

EID: 84907169371     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-014-9712-9     Document Type: Article

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