Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Morey, Marcos ^a   Castro Feijóo, Lidia ^b   Barreiro, Jesús ^b   Cabanas, Paloma ^b   Pombo, Manuel ^b   Gil, Marta ^c   Bernabeu, Ignacio ^b   Díaz Grande, José M ^d   Rey Cordo, Lourdes ^d   Ariceta, Gema ^e   Rica, Itxaso ^e   Nieto, José ^f   Vilalta, Ramón ^f   Martorell, Loreto ^g   Vila Cots, Jaime ^g   Aleixandre, Fernando ^h   Fontalba, Ana ⁱ   Soriano Guillén, Leandro ^j   García Sagredo, José M ^k   García Miñaur, Sixto ^l   Rodríguez, Berta ^d   Juaristi, Saioa ^m   García Pardos, Carmen ^m   Martínez Peinado, Antonio ⁿ   Millán, José M ^o   Medeira, Ana ^p   Moldovan, Oana ^p   Fernandez, Angeles ^h   Loidi, Lourdes ^a   more..

^a Fundacion Publica Galega de Medicina Xenomica   (Spain)

^b University Hospital of Santiago de Compostela   (Spain)

^c HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^d Servicio de Medicina Interna Enfermedades Infecciosas   (Spain)

^e HOSPITAL DE CRUCES   (Spain)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^g HOSPITAL SANT JOAN DE DÉU   (Spain)

^h HOSPITAL VIRGEN DE LA SALUD   (Spain)

ⁱ HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^j Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^k HOSPITAL RAMÓN Y CAJAL   (Spain)

^l HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^m HOSPITAL DONOSTIA   (Spain)

ⁿ HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^o HOSPITAL UNIVERSITARIO LA FE   (Spain)

^p HOSPITAL DE SANTA MARIA   (Portugal)

more..

Author keywords

[No Author keywords available]

Indexed keywords

1,25 DIHYDROXYERGOCALCIFEROL; PHOSPHATE; CALCITRIOL; PHEX PROTEIN, HUMAN; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; FEMALE; FISHER EXACT TEST; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KIDNEY TUBULE ABSORPTION; MALE; PHEX GENE; RANK SUM TEST; X LINKED HYPOPHOSPHATEMIC RICKETS; BLOOD; CHEMISTRY; DOMINANT GENE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INFANT; KIDNEY TUBULE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; RICKETS;

ADOLESCENT; CALCITRIOL; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INFANT; KIDNEY TUBULES; MALE; MUTATION; PHENOTYPE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PHOSPHATES; RICKETS;

EID: 80052570068     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-116     Document Type: Article

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