Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets

Journal of the Formosan Medical Association

Volumn 104, Issue 3, 2005, Pages 198-202

  Chou, Yen Yin ^a   Chao, Sheau Chiou ^a   Tsai, Shang Chun ^a,b   Lin, Shio Jean ^a  

^a NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Case reports; DNA mutational analysis; Hypophosphatemia, familial; Mutation; PHEX gene

Indexed keywords

CALCITRIOL; GLUTAMINE; PHOSPHATE; PHEX PROTEIN, HUMAN; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROTEIN;

ADOLESCENT; ARTICLE; BASE PAIRING; BONE RADIOGRAPHY; CASE REPORT; CODON; DIAGNOSTIC TEST; DNA FLANKING REGION; DNA SEQUENCE; ENDOCRINE FUNCTION TEST; EXON; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HYPOPHOSPHATEMIA; LEG MALFORMATION; PATIENT COMPLIANCE; PHENOTYPE; PHEX GENE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; REGULATOR GENE; RICKETS; SHORT STATURE; GENETICS; TAIWAN; X CHROMOSOME;

ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; PHENOTYPE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROTEINS; TAIWAN;

EID: 19144366650     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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