Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets

Calcified Tissue International

Volumn 81, Issue 6, 2007, Pages 415-420

  Xia, Weibo ^a   Meng, Xunwu ^a   Jiang, Yan ^a   Li, Mei ^a   Xing, Xiaoping ^a   Pang, Li ^a   Wang, Ou ^a   Pei, Yu ^b   Yu, Li Yun ^a   Sun, Yue ^a   Hu, Yingying ^a   Zhou, Xueying ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b Second Artillery General Hospital   (China)

Author keywords

FGF23; Mutation; PHEX; X linked hypophosphatemic rickets

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

ADOLESCENT; ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; ETHNIC DIFFERENCE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHOSPHATE REGULATING GENE WITH HOMOLOGY TO ENDOPEPTIDASE ON X CHROMOSOME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DETERMINATION; REGULATOR GENE; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; FIBROBLAST GROWTH FACTORS; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; SEQUENCE ANALYSIS, DNA;

EID: 38549150453     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-007-9067-4     Document Type: Article

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