Mutational analysis of the PHEX gene: Novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets

Calcified Tissue International

Volumn 85, Issue 3, 2009, Pages 211-220

  Clausmeyer, S ^a,h   Hesse, V ^b   Clemens, P C ^c   Engelbach, M ^d   Kreuzer, M ^e   Becker Rose, P ^f   Spital, H ^g   Schulze, E ^a   Raue, F ^a  

^a Endocrine Practice Prof Raue   (Germany)

^b SANA KLINIKUM OFFENBACH   (Germany)

^c Children's Hospital   (Germany)

^d Endocrine Practice   (Germany)

^e HANNOVER MEDICAL SCHOOL   (Germany)

^f Medical Practice for General Medicine   (Germany)

^g Practice for Internal Medicine and Endocrinology   (Germany)

^h Molekulargenetisches Labor Prof Raue   (Germany)

Author keywords

Multiplex ligation dependent probe amplification; PHEX gene; Phosphate diabetes

Indexed keywords

PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; THREONINE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; HETEROZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; X LINKED HYPOPHOSPHATEMIC RICKETS;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INFANT; MALE; MOLECULAR BIOLOGY; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; POINT MUTATION; POLYMORPHISM, GENETIC; THREONINE;

EID: 69549129404     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-009-9260-8     Document Type: Article

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