Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

European Journal of Human Genetics

Volumn 7, Issue 6, 1999, Pages 633-637

  Dufourcq Lagelouse, Rémi ^b   Lambert, Nathalie ^b   Duval, Michel ^b   Viot, Géraldine ^a   Vilmer, Etienne ^b   Fischer, Alain ^b   Prieur, Marguerite ^a   De Saint Basile, Geneviève ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

Chediak Higashi syndrome; Chromosome 1; LYST mutation; Maternal isodisomy

Indexed keywords

MICROSATELLITE DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHEDIAK HIGASHI SYNDROME; CHROMOSOME 1; FATHER; FEMALE; GENE MUTATION; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XY; MALE; MOTHER; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON; UNIPARENTAL DISOMY;

ALLELES; CHEDIAK-HIGASHI SYNDROME; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; FATHERS; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MODELS, GENETIC; MOTHERS; PEDIGREE; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; VESICULAR TRANSPORT PROTEINS;

EID: 0032830606     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200355     Document Type: Article

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