PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets

Human Genetics

Volumn 125, Issue 4, 2009, Pages 401-411

  Gaucher, Céline ^a,b   Walrant Debray, Odile ^a   Nguyen, Thy Minh ^a   Esterle, Laure ^a   Garabédian, Michèle ^a   Jehan, Frédéric ^a  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; GLUTAMIC ACID; LYSINE; METHIONINE; PHOSPHATE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; TRYPTOPHAN; VALINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DOMINANT INHERITANCE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN CELL; HYPOPHOSPHATEMIC RICKETS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; X CHROMOSOME LINKAGE;

5' UNTRANSLATED REGIONS; BASE SEQUENCE; CODON, NONSENSE; COHORT STUDIES; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INTRONS; MALE; MODELS, MOLECULAR; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROTEIN CONFORMATION; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 67349135290     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0631-z     Document Type: Article

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