Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects

European Journal of Human Genetics

Volumn 9, Issue 3, 2001, Pages 217-225

  Horsley, Sharon W ^a   Daniels, Rachael J ^a   Anguita, Eduardo ^a   Raynham, Helen A ^a   Peden, John F ^a   Villegas, Ana ^b   Vickers, Mark A ^c   Green, Sarah ^d   Waye, John S ^e   Chui, David H K ^e   Ayyub, Helena ^a   MacCarthy, Angela B ^a   Buckle, Veronica J ^a   Gibbons, Richard J ^f   Kearney, Lyndal ^a   Higgs, Douglas R ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^c ABERDEEN ROYAL INFIRMARY   (United Kingdom)

^d PRINCESS MARGARET HOSPITAL   (United Kingdom)

^e MCMASTER UNIVERSITY   (Canada)

^f UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Alpha globin; ATR 16; AXIN1; Chromosome 16, band 16p13.3; Haploinsufficiency; Monosomy

Indexed keywords

HEMOGLOBIN; PROTEIN;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; ARTICLE; CHILD; CHROMOSOME 16P; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; EVOLUTION; FATHER; FEMALE; GENE FUNCTION; GENE SEQUENCE; GENETIC CODE; GENETIC CONSERVATION; GENETIC DISORDER; HEMOGLOBIN SYNTHESIS; HOUSEKEEPING GENE; HUMAN; INHERITANCE; MALE; MONOSOMY; MOTHER; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; TELOMERE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MONOSOMY; PHENOTYPE; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID; TELOMERE;

EID: 0035080355     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200610     Document Type: Article

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