XNP mutation in a large family with juberg-marsidi syndrome

Nature Genetics

Volumn 12, Issue 4, 1996, Pages 359-360

  Villard, Laurent ^a   Gecz, Josef ^a,c   Mattéi, Jean François ^a   Fontés, Michel ^a   Saugier Veber, Pascale ^b   Munnich, Arnold ^b   Lyonnet, Stanislas ^b  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ATRX PROTEIN, HUMAN; HELICASE; NUCLEAR PROTEIN; PRIMER DNA;

ALLELE; ALPHA THALASSEMIA; CHROMOSOME MAP; FEMALE; GENETIC LINKAGE; GENETICS; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SYNDROME; X CHROMOSOME;

ALLELES; ALPHA-THALASSEMIA; BASE SEQUENCE; CHROMOSOME MAPPING; DNA HELICASES; DNA PRIMERS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; SYNDROME; X CHROMOSOME;

EID: 0030115629     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0496-359     Document Type: Article

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