PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping

Japanese Journal of Clinical Oncology

Volumn 36, Issue 12, 2006, Pages 814-821

  Suphapeetiporn, Kanya ^a   Kongkam, Pradermchai ^a   Tantivatana, Jarturon ^a   Sinthuwiwat, Thivaratana ^a   Tongkobpetch, Siraprapa ^a   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

Bannayan; Cowden syndrome; Exonic splicing enhancer; Nonsense mutations; Riley; Ruvalcaba syndrome

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PTEN PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BANNAYAN RILEY RUVALCABA SYNDROME; CASE REPORT; CODON; EXON; FAMILY; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INTESTINE POLYP; LIPOMA; MACROCEPHALY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENIS GLANS; THAILAND; CONGENITAL TUMOR; FEMALE; GENETICS; MIDDLE AGED; PEDIGREE; PHENOTYPE; REGULATORY RNA SEQUENCE; RNA SPLICING;

EXONS; FEMALE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PTEN PHOSPHOHYDROLASE; REGULATORY SEQUENCES, RIBONUCLEIC ACID; RNA SPLICING;

EID: 33947512338     PISSN: 03682811     EISSN: 14653621     Source Type: Journal    
DOI: 10.1093/jjco/hyl107     Document Type: Article

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