A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets

Journal of Endocrinological Investigation

Volumn 25, Issue 6, 2002, Pages 557-560

  Porcu, L ^a   Meloni, A ^a   Casula, L ^a   Asunis, I ^b   Marini, M G ^b   Cao, A ^b   Moi, Paolo ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b CNR   (Italy)

Author keywords

1 Hydroxylase deficiency; 25 OH cholecalcipherol 1 hydroxylase; 25 OHD3 1 hydroxylase; CYP27B1; Cytochrome p450; Pseudovitamin D deficiency rickets; Splicing mutant; Vitamin D dependent rickets type I

Indexed keywords

ALFACALCIDOL; ALKALINE PHOSPHATASE; ALPHA TOCOPHEROL; CALCIDIOL 1 MONOOXYGENASE; CALCIFEDIOL; CALCIUM; NUCLEOTIDE; PHOSPHORUS; DNA;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; DISEASE SEVERITY; DONOR SITE; EXON; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INFANT; MALE; MOLECULAR BIOLOGY; NUCLEOTIDE REPEAT; PHOSPHATE BLOOD LEVEL; RICKETS; VITAMIN D DEFICIENCY; VITAMIN D DEPENDENT RICKETS TYPE 1; CHEMISTRY; CHROMOSOME 12; DNA SEQUENCE; ENZYMOLOGY; GENETICS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RNA SPLICING;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; CASE REPORT; CHROMOSOMES, HUMAN, PAIR 12; DNA; HUMAN; INFANT; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RICKETS; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SUPPORT, NON-U.S. GOV'T; VITAMIN D DEFICIENCY; HUMANS;

EID: 0035987971     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03345500     Document Type: Article

References (8)

1. Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1alpha-hydroxylase
2. The 25-hydroxyvitamin D 1alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus
3. Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha
4. No enzyme activity of 25-hydroxyvitamin D3 1α-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation
5. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
6. Genetics vitamin D 1alpha-hydroxylase deficiency in 17 families
7. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
8. Genetic Disorders - Development: Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I