Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers

Journal of Human Genetics

Volumn 56, Issue 3, 2011, Pages 174-176

  Ozono, Keiichi ^a   Michigami, Toshimi ^b  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; PHOSPHOETHANOLAMINE; PYRIDOXAL 5 PHOSPHATE; PYROPHOSPHATE; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE; UNCLASSIFIED DRUG;

ADULT DISEASE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DISEASE; BONE MALFORMATION; BONE MINERALIZATION; BONE RADIOGRAPHY; CHILDHOOD DISEASE; CHROMOSOME 1P; CHROMOSOME DELETION; CHROMOSOME DELETION 1; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; FRACTURE; GENE INSERTION; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HYPERCALCEMIA; HYPOPHOSPHATASIA; INBORN ERROR OF METABOLISM; INFANT DISEASE; JAPANESE; KIDNEY DISEASE; LETHALITY; LIVER DISEASE; NEWBORN DISEASE; NEWBORN PERIOD; NOTE; PERIODONTAL DISEASE; PHYSICIAN; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; SHORT STATURE; THORAX RADIOGRAPHY; WEIGHT GAIN;

ALKALINE PHOSPHATASE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; INFANT, NEWBORN; MICE; MUTATION; PREVALENCE;

EID: 79953182334     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2011.6     Document Type: Note

References (14)

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