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

Dufourcq-Lagelouse, R; Lambert, N; Duval, M; Viot, G; Vilmer, E; Fischer, A; Prieur, M; de Saint Basile, G

Dufourcq-Lagelouse, R; Lambert, N; Duval, M; Viot, G; Vilmer, E; Fischer, A; Prieur, M; de Saint Basile, G.

Affiliation

Dufourcq-Lagelouse R; Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429, Hôpital Necker-Enfants Malades.

Eur J Hum Genet ; 7(6): 633-7, 1999 Sep.

Article in En | MEDLINE | ID: mdl-10482950

Subject(s)

Chediak-Higashi Syndrome/genetics; Chromosome Aberrations; Chromosomes, Human, Pair 1; Homozygote; Alleles; Child; Chromosome Banding; Fathers; Female; Genes, Recessive; Genetic Markers; Humans; In Situ Hybridization, Fluorescence; Intracellular Signaling Peptides and Proteins; Male; Models, Genetic; Mothers; Pedigree; Proteins/genetics; Reverse Transcriptase Polymerase Chain Reaction; Vesicular Transport Proteins

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Database: MEDLINE Main subject: Chromosomes, Human, Pair 1 / Chediak-Higashi Syndrome / Chromosome Aberrations / Homozygote Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 1999 Type: Article

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