Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome

Archives of Dermatological Research

Volumn 296, Issue 7, 2005, Pages 303-308

  Tanioka, Miki ^a   Takahashi, Katsu ^b   Kawabata, Tomohiro ^b   Kosugi, Shinji ^b   Murakami, KenIchiro ^b   Miyachi, Yoshiki ^a   Nishigori, Chikako ^a   Iizuka, Tadahiko ^b  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KYOTO UNIVERSITY   (Japan)

Author keywords

Germline mutation; Nevoid basal cell carcinoma syndrome; PTCH

Indexed keywords

GENOMIC DNA; GLYCINE; MEMBRANE PROTEIN; PROTEIN PATCHED; SERINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BASAL CELL NEVUS SYNDROME; CLINICAL ARTICLE; DIAGNOSTIC PROCEDURE; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN FUNCTION; STOP CODON;

ADULT; AGED; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASAL CELL NEVUS SYNDROME; EXONS; FEMALE; GENES, TUMOR SUPPRESSOR; GENOTYPE; GERM-LINE MUTATION; HUMANS; JAPAN; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PHENOTYPE; RECEPTORS, CELL SURFACE;

EID: 12844280455     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-004-0520-1     Document Type: Article

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