Clinical utility gene card for: Xeroderma pigmentosum

European Journal of Human Genetics

Volumn 22, Issue 7, 2014, Pages 953-

  Schubert, Steffen ^a   Lehmann, Janin ^a   Kalfon, Limor ^b   Slor, Hanoch ^c   Falik Zaccai, Tzipora C ^b   Emmert, Steffen ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b WESTERN GALILEE HOSPITAL   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ANALYTIC METHOD; ARTICLE; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; FALSE POSITIVE RESULT; FAMILY; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC DATABASE; GENETIC RISK; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDEL MUTATION; LIFESTYLE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; REAL TIME POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SPLICING DEFECT; XERODERMA PIGMENTOSUM; CLASSIFICATION; FEMALE; GENETICS; MALE; MUTATION;

DNA BINDING PROTEIN; TUMOR PROTEIN;

DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MUTATION; NEOPLASM PROTEINS; XERODERMA PIGMENTOSUM;

EID: 84902348045     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.233     Document Type: Article

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