Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

Journal of Medical Genetics

Volumn 36, Issue 3, 1999, Pages 183-186

  Villard, Laurent ^a   Bonino, Marie Claude ^a   Abidi, Fatima ^b   Ragusa, Angela ^c   Belougne, Jérôme ^a   Lossi, Anne Marie ^a   Seaver, Laurie ^b   Bonnefont, Jean Paul ^d   Romano, Corrado ^c   Fichera, Marco ^c   Lacombe, Didier ^e   Hanauer, André ^f   Philip, Nicole ^a   Schwartz, Charles ^b   Fontés, Michel ^a  

^a INSERM   (France)

^b GREENWOOD GENETIC CENTER   (United States)

^c OASI RESEARCH INSTITUTE IRCCS   (Italy)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e HÔPITAL PELLEGRIN   (France)

^f INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

ATR X; Mental retardation; Mutation; Zinc finger

Indexed keywords

HELICASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COST; FACIES; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALPHA-THALASSEMIA; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA HELICASES; EVALUATION STUDIES; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; SYNDROME; X CHROMOSOME; ZINC FINGERS;

EID: 0033055727     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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7. Abidi F, Carpenter NJ, Villard L, Curtis M, Fontes M, Schwartz CE. The Carpenter-Waziri XLMR syndrome results from a mutation in XNP. (In preparation.)
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