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Volumn 103, Issue 3, 2001, Pages 235-240

Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene

(4) Sergi, Consolato a,c Mornet, Etienne b Troeger, Jochen c Voigtlaender, Theda c

a UNIVERSITY HOSPITAL HEIDELBERG (Germany)

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

c UNIVERSITY OF HEIDELBERG (Germany)

Author keywords

3D model; Bone dysplasia; DNA sequencing; Mineralization

Indexed keywords

ALKALINE PHOSPHATASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BONE DYSPLASIA; BONE MINERALIZATION; CASE REPORT; CHORION VILLUS SAMPLING; DNA SEQUENCE; FETUS; GENE MUTATION; HUMAN; HYPOPHOSPHATASIA; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; MOLECULAR BIOLOGY; PATHOLOGY; PRENATAL SCREENING; PRIORITY JOURNAL; RADIODIAGNOSIS; SEQUENCE ANALYSIS;

ALKALINE PHOSPHATASE; BASE SEQUENCE; CALCIFICATION, PHYSIOLOGIC; FEMALE; FEMUR; FETUS; HUMANS; HYPOPHOSPHATASIA; INFANT MORTALITY; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PREGNANCY; TISSUE DISTRIBUTION;

EID: 0035888203 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1541 Document Type: Article

Times cited : (27)

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