Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

Biochemical and Biophysical Research Communications

Volumn 423, Issue 4, 2012, Pages 793-798

  Kang, Qing lin ^a   Xu, Jia ^a,b   Zhang, Zeng ^a   He, Jin wei ^a   Lu, Lian song ^a,b   Fu, Wen zhen ^a   Zhang, Zhen lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY AFFILIATED SIXTH PEOPLE S HOSPITAL   (China)

^b MEDICAL COLLEGE OF SOOCHOW UNIVERSITY   (China)

Author keywords

Mutation; PHEX; X linked hypophosphatemic rickets

Indexed keywords

ADULT; ARTICLE; CHINESE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHEX GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; YOUNG ADULT;

EID: 84863838951     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.06.042     Document Type: Article

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