Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - Functional evidence for a hydrophobic side-chain?

Experimental and Clinical Endocrinology and Diabetes

Volumn 117, Issue 1, 2009, Pages 28-33

  Utsch, B ^a,d   Brun Heath, I ^b   Staatz, G ^a   Gravou Apostolatou, C ^a   Karle, S ^a   Jacobs, U ^a   Ludwig, M ^c   Zenker, M ^a   Dorr H G ^a   Rascher, W ^a   Mornet, E ^b   Dotsch J ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

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

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

3D modeling; Alkaline phosphatase; Enzyme activity; Hypophosphatasia; TNSALP gene; TNSALP protein; Transfection studies

Indexed keywords

AMINO ACID; CALCITONIN; HYDROCHLOROTHIAZIDE;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME LOCALIZATION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPOPHOSPHATASIA; INFANT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TNSALP GENE; WILD TYPE;

ALKALINE PHOSPHATASE; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA; EXONS; FEMALE; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; INFANT, NEWBORN; ISOENZYMES; MUTATION; POLYMERASE CHAIN REACTION;

EID: 61849115738     PISSN: 09477349     EISSN: 14393646     Source Type: Journal    
DOI: 10.1055/s-2008-1073157     Document Type: Article

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