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Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia.

Authors :
Bertola F
Arosio C
Casati G
Piperno A
Crosti F
Colombo C
Source :
Human genetics [Hum Genet] 2009 Apr; Vol. 125 (3), pp. 334.
Publication Year :
2009

Subjects

Subjects :
Amino Acid Substitution
Codon genetics
Female
Humans
Hypophosphatasia embryology
Infant, Newborn
Molecular Sequence Data
Pregnancy
Alkaline Phosphatase deficiency
Alkaline Phosphatase genetics
Hypophosphatasia enzymology
Hypophosphatasia genetics
Mutation, Missense

Details

Language :
English
ISSN :
1432-1203
Volume :
125
Issue :
3
Database :
MEDLINE
Journal :
Human genetics
Publication Type :
Academic Journal
Accession number :
19309795

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