A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia

Oral Diseases

Volumn 7, Issue 6, 2001, Pages 331-335

  Watanabe, H ^a   Hashimoto Uoshima, M ^a   Goseki Sone, M ^b   Orimo, H ^c   Ishikawa, I ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b JAPAN WOMEN'S UNIVERSITY   (Japan)

^c NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

Hypophosphatasia; Point mutation; Tissue non specific alkaline phosphatase gene

Indexed keywords

ALANINE; ALKALINE PHOSPHATASE; CYTOSINE; OLIGONUCLEOTIDE; THYMINE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 1P; DNA DETERMINATION; EXON; FAMILY STUDY; HUMAN; HYPOPHOSPHATASIA; INTRON; MISSENSE MUTATION; PEDIGREE; PERIODONTAL DISEASE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALANINE; ALKALINE PHOSPHATASE; ALLELES; ALVEOLAR BONE LOSS; CHROMOSOMES, HUMAN, PAIR 1; CYTOSINE; ETHANOLAMINES; EXONS; FEMALE; GENES, DOMINANT; HUMANS; HYPOPHOSPHATASIA; INTRONS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PERIODONTITIS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; THYMINE; VALINE;

EID: 0035685918     PISSN: 1354523X     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1601-0825.2001.00740.x     Document Type: Article

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