Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: Bioinformatic analysis of the protein and predicted effects of all reported mutations

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Colombo, Elisa A ^a   Elcioglu, Nursel H ^b   Yucelten, Deniz ^b   Altunay, Ilknur ^c   Cetincelik, Umram ^d   Teti, Anna ^e   Del Fattore, Andrea ^f   Luciani, Matteo ^f   Sullivan, Spencer K ^g   Yan, Albert C ^g   Volpi, Ludovica ^a   Larizza, Lidia ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c SISLI ETFAL TRAINING AND RESEARCH HOSPITAL   (Turkey)

^d Department of Medical Genetics   (Turkey)

^e UNIVERSITY OF L'AQUILA   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

2H phosphoesterase superfamily; Bioinformatic prediction of C16orf57 protein; C16orf57; Dyskeratosis Congenita; Founder effect; Myelodysplasia; Poikiloderma with Neutropenia; RNA processing; Rothmund Thomson

Indexed keywords

COMPLEMENTARY DNA; PHOSPHATASE; RNA LIGASE; TETRAPEPTIDE; PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; DNA TRANSCRIPTION; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FEMALE; GENE CLUSTER; GENE DELETION; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE; HUMAN; MALE; NEUTROPENIA; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PEDIGREE ANALYSIS; PHENOTYPE; POIKILODERMA; POIKILODERMA WITH NEUTROPENIA; PRESCHOOL CHILD; PROTEIN ANALYSIS; PROTEIN FOLDING; PROTEIN MOTIF; PROTEIN STRUCTURE; RNA PROCESSING; SCHOOL CHILD; BIOLOGY; CHROMOSOME 16; GENETICS; METHODOLOGY; MUTATION; PATHOLOGY; ROTHMUND THOMSON SYNDROME;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; NEUTROPENIA; OPEN READING FRAMES; PROTEINS; ROTHMUND-THOMSON SYNDROME; YOUNG ADULT;

EID: 84856047762     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-7     Document Type: Article

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