Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1724-1728

  Kosaki, Rika ^a   Nagao, Kazuaki ^b   Kameyama, Kohzoh ^b   Suzuki, Maiko ^b   Fujii, Katsunori ^c   Miyashita, Toshiyuki ^b  

^a NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b KITASATO UNIVERSITY   (Japan)

^c CHIBA UNIVERSITY   (Japan)

Author keywords

Nevoid basal cell carcinoma syndrome; PTCH1; Tandem duplication

Indexed keywords

GENOMIC DNA; MESSENGER RNA;

ADOLESCENT; ARTICLE; BASAL CELL NEVUS SYNDROME; CARCINOGENESIS; CASE REPORT; CHROMOSOME BREAKAGE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENE SEQUENCE; GENETIC IDENTIFICATION; HETEROZYGOSITY; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTCH1 GENE; SEQUENCE ANALYSIS; STOP CODON;

ADOLESCENT; AMINO ACID SEQUENCE; BASAL CELL NEVUS SYNDROME; BASE SEQUENCE; EXONS; FEMALE; GENE DUPLICATION; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; RECEPTORS, CELL SURFACE; TRANSCRIPTION, GENETIC;

EID: 84862705748     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35412     Document Type: Article

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