Erratum: European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: An EQA study (European Journal of Human Genetics (2015) 23 (560) DOI: 10.1038/ejhg.2014.127);European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: An EQA study

European Journal of Human Genetics

Volumn 23, Issue 4, 2015, Pages 438-444

  Garin, Intza ^a   Mantovani, Giovanna ^b   Aguirre, Urko ^c   Barlier, Anne ^d,i   Brix, Bettina ^e   Elli, Francesca M ^b   Freson, Kathleen ^f   Grybek, Virginie ^g   Izzi, Benedetta ^f   Linglart, Agnès ^g   De Nanclares, Guiomar Perez ^a   Silve, Caroline ^g,h   Thiele, Susanne ^e   Werner, Ralf ^e   Maupetit Mehouas, Stephanie ^g   Hiort, Olaf ^e   Bordogna, Paolo ^b   Boldrin, Valentina ^b   De Sanctis, Luisa ^j   Pereda, Arrate ^a   Lecumberri, Beatriz ^k   Turan, Serap ^l   Mackay, Deborah J G ^m   more..

^a HOSPITAL TXAGORRITXU   (Spain)

^b UNIVERSITY OF MILAN   (Italy)

^c HOSPITAL DE GALDAKAO   (Spain)

^d University of Mediterranée   (France)

^e UNIVERSITY OF LÜBECK   (Germany)

^f UNIVERSITY OF LEUVEN   (Belgium)

^g BICÊTRE HOSPITAL   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ AIX MARSEILLE UNIVERSITY   (France)

^j UNIVERSITY OF TURIN   (Italy)

^k HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^l MARMARA UNIVERSITY   (Turkey)

^m UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MICROSATELLITE DNA; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; STX16 PROTEIN, HUMAN; SYNTAXIN 16;

ARTICLE; CPG ISLAND; DNA ISOLATION; DNA METHYLATION; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE; GNAS LOCUS; HUMAN; MOLECULAR DIAGNOSIS; POINT MUTATION; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PYROSEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; DNA SEQUENCE; EUROPE; GENETIC EPIGENESIS; GENETIC SCREENING; GENETIC VARIATION; GENETICS; GENOTYPING TECHNIQUE; PRACTICE GUIDELINE; STANDARDS;

DNA METHYLATION; EPIGENESIS, GENETIC; EUROPE; GENE DELETION; GENETIC TESTING; GENETIC VARIATION; GENOTYPING TECHNIQUES; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; PRACTICE GUIDELINES AS TOPIC; PSEUDOHYPOPARATHYROIDISM; SEQUENCE ANALYSIS, DNA; SYNTAXIN 16; UNIPARENTAL DISOMY;

EID: 84924724729     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.40     Document Type: Erratum

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