Hypophosphatasia: Identification of Five Novel Missense Mutations (G507A, G705A, A748G, T1155C, G1320A) in the Tissue-Nonspecific Alkaline Phosphatase Gene Among Japanese Patients

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Goseki Sone, Masae ^a   Orimo, Hideo ^b   limura, Tadahiro ^a   Takagi, Yuzo ^a   Watanabe, Hisashi ^a   Taketa, Kazuhisa ^c   Sato, Seiji ^d   Mayanagi, Hideaki ^e   Shimada, Takashi ^b   Oida, Shinichiro ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b NIPPON MEDICAL SCHOOL   (Japan)

^c OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^d KEIO UNIVERSITY   (Japan)

^e TOHOKU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; DNA;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHEMISTRY; CHILD; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; HYPOPHOSPHATASIA; JAPAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; CLINICAL ARTICLE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; ALKALINE PHOSPHATASE; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPOPHOSPHATASIA; JAPAN; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 17744417675     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110184     Document Type: Article

References (16)

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