Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients fromCampania and in their relatives

Journal of Endocrinological Investigation

Volumn 35, Issue 2, 2012, Pages 169-173

  Capalbo, D ^a   Mazza, C ^b   Giordano, R ^c   Improda, N ^a   Arvat, E ^d   Cervato, S ^e   Morlin, L ^e   Pignata, C ^a   Betterle, C ^e   Salerno, M ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

Author keywords

AIRE; APECED; Autoimmune diseases; Genotype phenotype correlation; Pediatric endocrinology

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; GENOMIC DNA;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; ITALY; MALE; PRESCHOOL CHILD; PREVALENCE; RELATIVE; SIBLING;

ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; ITALY; MALE; MIDDLE AGED; POLYENDOCRINOPATHIES, AUTOIMMUNE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS;

EID: 84862876939     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/7677     Document Type: Article

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