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Volumn 16, Issue 6, 2000, Pages 509-517

Genetic variation in ICF syndrome: Evidence for genetic heterogeneity

(14) Wijmenga, Cisca a,j Scott Hansen, R b Gimelli, Giorgio c Björck, Erik J d Graham Davies, E e Valentine, David f Belohradsky, Bernd H g Van Dongen, Jacques J h Smeets, Dominique F C M i Van Den Heuvel, Lambert P W J i Luyten, Jan A F M a Strengman, Eric a Weemaes, Corry i Pearson, Peter L a

a UNIVERSITY MEDICAL CENTER UTRECHT (Netherlands)

b UNIVERSITY OF WASHINGTON (United States)

c G GASLINI INSTITUTE (Italy)

d KAROLINSKA UNIVERSITY HOSPITAL (Sweden)

e GREAT ORMOND STREET HOSPITAL (United Kingdom)

f ST JOHN'S HOSPITAL (United Kingdom)

g LUDWIG MAXIMILIANS UNIVERSITY (Germany)

h SOPHIA CHILDREN S HOSPITAL (Netherlands)

i RADBOUD UNIVERSITY MEDICAL CENTER (Netherlands)

more..

Author keywords

Chromosome 20; DNA methylation, de novo; DNMT3B; Genetic heterogeneity; ICF syndrome; Mutation analysis

Indexed keywords

DNA METHYLTRANSFERASE;

ARTICLE; AUTOSOMAL DISORDER; CELLULAR IMMUNITY; CENTROMERE; DNA METHYLATION; FACE MALFORMATION; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; ICF SYNDROME; IMMUNOGLOBULIN DEFICIENCY; MALE; MICROSATELLITE INSTABILITY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHILD, PRESCHOOL; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MUTATION, MISSENSE; VARIATION (GENETICS);

EID: 0034530273 PISSN: 10597794 EISSN: None Source Type: Journal
DOI: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V Document Type: Article

Times cited : (74)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.