A point mutation in the XNP gene, associated with an ATR-X phenotype without a-thalassemia

European Journal of Human Genetics

Volumn 4, Issue 6, 1996, Pages 316-320

  Villard, L ^a   Lacombe, D ^a   Fontes M ^a  

^a INSERM   (France)

Author keywords

Atr x syndrome; Mental retardation; Mutation; Xnp gene

Indexed keywords

HELICASE; TRANSCRIPTION FACTOR;

ALPHA THALASSEMIA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE SEGREGATION; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

ALPHA-THALASSEMIA; BASE SEQUENCE; DNA HELICASES; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; SYNDROME;

EID: 0030478337     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472225     Document Type: Article

References (5)

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2. Villard L, Gecz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontés M: Construction of a YAC contig spanning the Xq 13.3 subband. Genomics 1995;26:115-122.
3. Gecz J, Pollard H, Consalez GG, Villard L, Stayton C, Millasseau P, Khrestchatisky M, Fontés M: Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Hum Mol Genet 1994;3:39-44.
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