Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing

Journal of Dermatological Science

Volumn 75, Issue 1, 2014, Pages 66-68

  Ritelli, Marco ^a   Chiarelli, Nicola ^a   Quinzani, Stefano ^a   Dordoni, Chiara ^a   Venturini, Marina ^b   Pezzani, Lidia ^a   Calzavara Pinton, Piergiacomo ^b   Colombi, Marina ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b SPEDALI CIVILI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ATP6V0A2 GENE; BIOINFORMATICS; CASE REPORT; CLINICAL FEATURE; CONGENITAL HIP DISLOCATION; CUTIS LAXA; DISEASE ASSOCIATION; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; GESTATIONAL AGE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; LETTER; LOSS OF FUNCTION MUTATION; MUTATIONAL ANALYSIS; PREGNANCY TOXEMIA; PRIORITY JOURNAL; UMBILICAL HERNIA; WHOLE EXOME SEQUENCING; ENZYMOLOGY; EXOME; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PREDICTIVE VALUE; PROCEDURES; SKIN;

ATP6V0A2 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

CUTIS LAXA; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROTON-TRANSLOCATING ATPASES; SKIN;

EID: 84901652505     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2014.04.004     Document Type: Letter

References (9)

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