Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome

Journal of Human Genetics

Volumn 57, Issue 7, 2012, Pages 422-426

  Suzuki, Maiko ^a   Hatsuse, Hiromi ^a   Nagao, Kazuaki ^a   Takayama, Yoshinaga ^a   Kameyama, Kohzoh ^a   Kabasawa, Yuji ^b   Omura, Ken ^b   Yoshida, Masayuki ^b   Fujii, Katsunori ^c   Miyashita, Toshiyuki ^a  

^a KITASATO UNIVERSITY   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c CHIBA UNIVERSITY   (Japan)

Author keywords

alternative splicing; nevoid basal cell carcinoma syndrome; PTCH1

Indexed keywords

ISOPROTEIN; PROTEIN PATCHED 1; PROTEIN PTCHL; PROTEIN PTCHM; RNA ISOFORM; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASAL CELL NEVUS SYNDROME; CASE REPORT; CHILD; CODON; EXON; GENETIC CODE; HAPLOINSUFFICIENCY; HUMAN; MALE; NONSENSE MUTATION; RNA TRANSLATION; SCHOOL CHILD;

BASAL CELL NEVUS SYNDROME; CHILD; CODON, NONSENSE; EXONS; HAPLOINSUFFICIENCY; HEK293 CELLS; HUMANS; MALE; PROTEIN BIOSYNTHESIS; PROTEIN ISOFORMS; RECEPTORS, CELL SURFACE; RECOMBINANT FUSION PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSFECTION;

MUS;

EID: 84864377460     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.45     Document Type: Article

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