Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

Clinical Endocrinology

Volumn 45, Issue 1, 1996, Pages 85-92

  Hawa, N S ^a   Cockerill, F J ^a   Vadher, S ^a   Hewison, M ^a   Rut, A R ^a   Pike, J W ^b   O'Riordan, J L H ^a   Farrow, S M ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b LIGAND PHARMACEUTICALS INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; MESSENGER RNA; VITAMIN D RECEPTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; MOLECULAR BIOLOGY; MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; VITAMIN D RESISTANT RICKETS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, TERMINATOR; DNA PRIMERS; DNA, CIRCULAR; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RECEPTORS, CALCITRIOL;

EID: 0029937338     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2265.1996.tb02064.x     Document Type: Article

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