A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

Clinical Genetics

Volumn 73, Issue 3, 2008, Pages 245-250

  Brun Heath, Isabelle ^a,e   Chabrol, E ^b   Fox, M ^c   Drexler, K ^d   Petit, C ^a   Taillandier, A ^b   De Mazancourt, P ^a   Serre, J L ^a   Mornet, E ^a,b  

^a Section of Radiology   (France)

^b CENTRE HOSPITALIER DE VERSAILLES   (France)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e RAYMOND POINCARÉ HOSPITAL   (France)

Author keywords

Alkaline phosphatase; Benign perinatal hypophosphatasia; Exon skipping; Genotype phenotype correlation; mRNA; Quantification; Tissue non specific

Indexed keywords

ALKALINE PHOSPHATASE; ALKALINE PHOSPHATASE LIVER TYPE PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE EXPRESSION; GENE OVEREXPRESSION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; INFANT; LETHAL GENE; MISSENSE MUTATION; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; QUALITATIVE RESEARCH; QUANTITATIVE ANALYSIS; RNA ANALYSIS;

ALKALINE PHOSPHATASE; EXONS; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; HYPOPHOSPHATASIA; INFANT, NEWBORN; MUTATION; RNA, MESSENGER;

EID: 38949138426     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00902.x     Document Type: Article

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