A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets

British Journal of Dermatology

Volumn 158, Issue 1, 2008, Pages 168-171

  Arita, K ^a,b,e   Nanda, A ^c   Wessagowit, V ^a,d,e   Akiyama, M ^b   Alsaleh, Q A ^c   McGrath, J A ^a,e  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c AL SABAH HOSPITAL   (Kuwait)

^d Institute of Dermatology Thailand   (Thailand)

^e ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Alopecia; Deafness; Rickets; Vitamin D

Indexed keywords

GENOMIC DNA; VITAMIN D RECEPTOR;

ALOPECIA; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE ASSOCIATION; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAPULE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; VDR GENE; VITAMIN D RESISTANT RICKETS;

ALOPECIA; CHILD; DATABASES, GENETIC; DEAFNESS; DNA MUTATIONAL ANALYSIS; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CALCITRIOL; SKIN DISEASES, GENETIC;

EID: 36849004366     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.08232.x     Document Type: Article

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