Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Hum Mutat
; 22(1): 105-6, 2003 Jul.
Article
en En
| MEDLINE
| ID: mdl-12815606
ABSTRACT
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fosfatasa Alcalina
/
Hipofosfatasia
/
Mutación
Tipo de estudio:
Clinical_trials
/
Diagnostic_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
2003
Tipo del documento:
Article
País de afiliación:
Francia