Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

European Journal of Human Genetics

Volumn 6, Issue 4, 1998, Pages 308-314

  Mornet, E ^a,b   Taillandier, A ^a   Peyramaure, S ^a   Kaper, F ^a   Muller, F ^c   Brenner, R ^d   Bussiere P ^e   Freisinger, P ^f   Godard, J ^g   Le Merrer, M ^h   Oury, J F ⁱ   Plauchu, H ^j   Puddu, R ^k   Rival, J M ^l   Superti Furga, A ^m   Touraine, R L ⁿ   Serre, J L ^b   Simon Bouy, B ^a  

^a LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^b Lab Cytogenetique Genet Molec H   (France)

^c HÔPITAL AMBROISE PARÉ   (France)

^d UNIVERSITY HOSPITAL BONN   (Germany)

^e Service d'Echographie   (France)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g Hôpital de Mantes la Jolie   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ HÔPITAL ROBERT DEBRÉ   (France)

^j HÔTEL DIEU   (France)

^k Clinica Pediatrica 2a   (Italy)

^l NANTES UNIVERSITY HOSPITAL   (France)

^m Universitats Kinderklinik   (Switzerland)

ⁿ HÔPITAL DEBROUSSE   (France)

more..

Author keywords

Alkaline phosphatase; Hypophosphatasia; Mutations

Indexed keywords

ALKALINE PHOSPHATASE; DNA; SIGNAL PEPTIDE;

ARTICLE; CLINICAL ARTICLE; DNA POLYMORPHISM; DNA SEQUENCE; EUROPE; FEMALE; FETUS; GENE MUTATION; GENETIC MARKER; GENETIC SCREENING; HUMAN; HYPOPHOSPHATASIA; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION;

EID: 13144249219     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200190     Document Type: Article

References (19)

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