Clinical utility gene card for: Pseudohypoparathyroidism

European Journal of Human Genetics

Volumn 21, Issue 6, 2013, Pages

  Mantovani, Giovanna ^a   Linglart, Agnes ^b   Garin, Intza ^c   Silve, Caroline ^b   Elli, Francesca M ^a   De Nanclares, Guiomar Perez ^c  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c HOSPITAL TXAGORRITXU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALBRIGHT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME; CLINICAL GENETICS; COST EFFECTIVENESS ANALYSIS; DNA FLANKING REGION; DNA SEQUENCE; GENE MUTATION; GENOTYPE; HAPLOINSUFFICIENCY; HUMAN; INDEL MUTATION; LOSS OF FUNCTION MUTATION; POINT MUTATION; PREDICTIVE VALUE; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOHYPOPARATHYROIDISM; PYROSEQUENCING; DIAGNOSTIC PROCEDURE; ECONOMICS; GENETIC SCREENING; GENETICS;

DIAGNOSTIC TECHNIQUES AND PROCEDURES; GENETIC TESTING; HUMANS; PSEUDOHYPOPARATHYROIDISM;

EID: 84885933597     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.211     Document Type: Article

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