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Journal of Bone and Mineral Research

Volumn 16, Issue 12, 2001, Pages 2313-2319

Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia

(6) Orimo, Hideo a Girschick, Hermann J b Goseki Sone, Masae c Ito, Masahiro d Oda, Kimimitsu d Shimada, Takashi a

a NIPPON MEDICAL SCHOOL (Japan)

b UNIVERSITY OF WÜRZBURG (Germany)

c JAPAN WOMEN'S UNIVERSITY (Japan)

d NIIGATA UNIVERSITY (Japan)

Author keywords

Expression; Hypophosphatasia; Mutation; Phenotype; Tissue nonspecific alkaline phosphatase

Indexed keywords

ALKALINE PHOSPHATASE; DNA; MUTANT PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DISEASE; CLINICAL ARTICLE; FAMILY STUDY; GENE MUTATION; GERMANY; HUMAN; HYPOPHOSPHATEMIA; INFANT; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALKALINE PHOSPHATASE; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; GERMANY; HUMANS; HYPOPHOSPHATASIA; INFANT; MALE; MUTATION; PHENOTYPE; PRECIPITIN TESTS;

EID: 0035196396 PISSN: 08840431 EISSN: None Source Type: Journal
DOI: 10.1359/jbmr.2001.16.12.2313 Document Type: Article

Times cited : (47)

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