Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients

Journal of Human Genetics

Volumn 54, Issue 7, 2009, Pages 403-408

  Takahashi, Chiaki ^a   Kanazawa, Nozomi ^a   Yoshikawa, Yoshie ^a   Yoshikawa, Reigetsu ^a   Saitoh, Yuko ^a   Chiyo, Hideaki ^b   Tanizawa, Takakuni ^a   Hashimoto Tamaoki, Tomoko ^a   Nakano, Yoshiro ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

^b OCHANOMIZU UNIVERSITY   (Japan)

Author keywords

BCNS; Japanese; Mutation analysis; PTCH1

Indexed keywords

PROTEIN PATCHED 1;

ADULT; ARTICLE; BASAL CELL NEVUS SYNDROME; CHILD; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENETIC ANALYSIS; GERM LINE; HUMAN; JAPANESE; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASAL CELL NEVUS SYNDROME; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; FEMALE; GERM-LINE MUTATION; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CELL SURFACE;

ERINACEIDAE;

EID: 68449101060     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.55     Document Type: Article

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