G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family

Journal of Inherited Metabolic Disease

Volumn 25, Issue 7, 2002, Pages 601-602

  Orimo, H ^a   Shin, Y S ^b   Shimada, T ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; MUTANT PROTEIN; PYRIDOXAL 5 PHOSPHATE;

ARTICLE; CASE REPORT; CHILDHOOD DISEASE; DNA EXTRACTION; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GERMANY; HOMOZYGOSITY; HUMAN; HYPOPHOSPHATASIA; LEG MALFORMATION; MUTATIONAL ANALYSIS; PERIODONTAL DISEASE; THORAX MALFORMATION;

ALKALINE PHOSPHATASE; CHILD, PRESCHOOL; FEMALE; GERMANY; HAPLOTYPES; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; MALE; POINT MUTATION; POLYMORPHISM, GENETIC;

EID: 0036880994     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022055710295     Document Type: Article

References (3)

1. Gehring B, Mornet E, Plath H, Hansmann M, Bartmann P, Brenner RE (1999) Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family. Clin Genet 56: 313-317.
2. 317 → Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17: 215-217.
3. Whyte MP (2001) Hypophosphatasia. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn, vol. 4. New York: McGraw-Hill, 5313-5329.