Mutant deoxynucleotide carrier is associated with congenital microcephaly

Nature Genetics

Volumn 32, Issue 1, 2002, Pages 175-179

  Rosenberg, Marjorie J ^a   Agarwala, Richa ^b   Bouffard, Gerard ^b   Davis, Joie ^a   Fiermonte, Giuseppe ^c   Hilliard, Mark S ^d   Koch, Thorsten ^e   Kalikin, Linda M ^f   Makalowska, Izabela ^a   Morton, D Holmes ^g   Petty, Elizabeth M ^f   Weber, James L ^h   Palmieri, Ferdinando ^c   Kelley, Richard I ^g,i   Schäffer, Alejandro A ^b   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY OF BARI   (Italy)

^d Logicon ROW Sciences Corporation   (United States)

^e ZUSE INSTITUTE BERLIN   (Germany)

^f UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^g CLINIC FOR SPECIAL CHILDREN   (United States)

^h MARSHFIELD CLINIC   (United States)

ⁱ JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYRIBONUCLEOTIDE;

ARTICLE; BRAIN MALFORMATION; CHROMOSOME 17Q; CLINICAL ARTICLE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; INFANT; MICROCEPHALY; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

CARRIER PROTEINS; CHRISTIANITY; CHROMOSOMES, HUMAN, PAIR 17; CLONING, MOLECULAR; DEOXYRIBONUCLEOTIDES; ESCHERICHIA COLI; ETHNIC GROUPS; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MEMBRANE TRANSPORT PROTEINS; MICROCEPHALY; MUTATION; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; RECOMBINANT PROTEINS;

EID: 18544382852     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng948     Document Type: Article

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