Prenatal diagnosis for a novel splice mutation of PHEX gene in a large han chinese family affected with x-linked hypophosphatemic rickets

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 3, 2010, Pages 385-391

  Qiu, Guangrong ^a   Liu, Caixia ^a   Zhou, Jingyi ^a   Liu, Peiyan ^a   Wang, Jun ^a   Jiang, Hongkun ^a   Hou, Zhiyan ^b   Zhao, Yanyan ^a   Sun, Kailai ^a   Li Ling, Jesse ^a,c  

^a CHINA MEDICAL UNIVERSITY   (China)

^b Benxi Central Hospital   (China)

^c NORTHEASTERN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PHEX PROTEIN, HUMAN; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

ARTICLE; BIOINFORMATICS; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GESTATIONAL AGE; HETEROZYGOTE; HUMAN; INFANT; INTRON; MALE; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PHEX GENE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRENATAL DIAGNOSIS; REGULATOR GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICING DEFECT; UMBILICAL CORD BLOOD; X LINKED HYPOPHOSPHATEMIC RICKETS; ALTERNATIVE RNA SPLICING; BIOLOGY; CHINA; DNA SEQUENCE; ETHNOLOGY; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENETICS; MUTATION; PEDIGREE; PREGNANCY; X CHROMOSOME LINKED DISORDER;

ALTERNATIVE SPLICING; CHINA; COMPUTATIONAL BIOLOGY; EXONS; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FAMILY; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INTRONS; MALE; MUTATION; PEDIGREE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA;

EID: 77954943224     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0175     Document Type: Article

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