POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Human Mutation

Volumn 36, Issue 11, 2015, Pages 1070-1079

  Lessel, Davor ^a   Hisama, Fuki M ^b   Szakszon, Katalin ^c   Saha, Bidisha ^d   Sanjuanelo, Alexander Barrios ^e   Salbert, Bonnie A ^f   Steele, Pamela D ^f   Baldwin, Jennifer ^g   Brown, W Ted ^h   Piussan, Charles ⁱ   Plauchu, Henri ^j   Szilvássy, Judit ^c   Horkay, Edit ^k   Högel, Josef ^l   Martin, George M ^d   Herr, Alan J ^d   Oshima, Junko ^d   Kubisch, Christian ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF DEBRECEN   (Hungary)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSIDAD DEL NORTE   (Colombia)

^f GEISINGER MEDICAL CENTER   (United States)

^g UNIVERSITY OF MINNESOTA   (United States)

^h NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

ⁱ UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

^j UNIVERSITÉ LYON 1   (France)

^k Diagnoscan Ltd   (Hungary)

^l UNIVERSITY OF ULM   (Germany)

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Author keywords

Deafness; Mandibular hypoplasia; POLD1; Progeroid features (MDP) syndrome; Werner syndrome

Indexed keywords

PEPTIDES AND PROTEINS; POLD1 PROTEIN; UNCLASSIFIED DRUG; DNA DIRECTED DNA POLYMERASE GAMMA; POLD1 PROTEIN, HUMAN;

ADULT; ARTICLE; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; FEMALE; GERMLINE MUTATION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; JOINT CONTRACTURE; MALE; MANDIBLE HYPOPLASIA; METABOLIC DISORDER; PRIORITY JOURNAL; PROGERIA; SEQUENCE ANALYSIS; SHORT STATURE; WERNER SYNDROME; ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; CHEMISTRY; CHROMOSOME ABERRATION; COCKAYNE SYNDROME; DIFFERENTIAL DIAGNOSIS; DNA MUTATIONAL ANALYSIS; FACIES; GENETICS; GENOTYPE; MIDDLE AGED; MOLECULAR MODEL; PHENOTYPE; PROTEIN CONFORMATION; REGISTER; TRANSFORMED CELL LINE; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SUBSTITUTION; CELL LINE, TRANSFORMED; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATIONS; COCKAYNE SYNDROME; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA POLYMERASE III; FACIES; FEMALE; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; PHENOTYPE; PROTEIN CONFORMATION; REGISTRIES; WERNER SYNDROME; YOUNG ADULT;

EID: 84944163195     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22833     Document Type: Article

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