Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

  Claverie Martín, Félix ^a   García Nieto, Víctor ^a   Loris, Cesar ^b   Ariceta, Gema ^c   Nadal, Inmaculada ^d   Espinosa, Laura ^e   Fernández Maseda, Ángeles ^f   Antón Gamero, Montserrat ^g   Avila, África ^h   Madrid, Álvaro ⁱ   González Acosta, Hilaria ^a   Córdoba Lanus, Elizabeth ^a   Santos, Fernando ^j   Gil Calvo, Marta ^k   Espino, Mar ^l   García Martinez, Elena ^g   Sanchez, Ana ^m   Muley, Rafael ⁿ  

^a HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c HOSPITAL DE CRUCES   (Spain)

^d Universidad Pública de Navarra   (Spain)

^e HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^f HOSPITAL VIRGEN DE LA SALUD   (Spain)

^g HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^h Servicio Andaluz de Salud   (Spain)

ⁱ HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^j HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^k Instituto de Salud Carlos III   (Spain)

^l HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

^m HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

ⁿ HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CLAUDIN 16;

ADOLESCENT; ADULT; ARTICLE; BIOINFORMATICS; CHILD; CLAUDIN 16 GENE; CLAUDIN 19 GENE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COLOBOMA; DISEASE ASSOCIATION; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HUMAN; HYPERCALCIURIA; HYPOMAGNESEMIA; KIDNEY CALCIFICATION; KIDNEY TRANSPLANTATION; MALE; MICROSATELLITE MARKER; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; MYOPIA; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CLAUDINS; COHORT STUDIES; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; HYPERCALCIURIA; KIDNEY DISEASES; MAGNESIUM DEFICIENCY; MALE; MIDDLE AGED; MODELS, GENETIC; NEPHROCALCINOSIS; PHENOTYPE; POLYMORPHISM, GENETIC; SPAIN; YOUNG ADULT;

EID: 84871869257     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0053151     Document Type: Article

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