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Volumn 4, Issue 6, 1996, Pages 316-320
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A point mutation in the XNP gene, associated with an ATR-X phenotype without a-thalassemia
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Author keywords
Atr x syndrome; Mental retardation; Mutation; Xnp gene
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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;
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EID: 0030478337
PISSN: 10184813
EISSN: None
Source Type: Journal
DOI: 10.1159/000472225 Document Type: Article |
Times cited : (30)
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References (5)
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