New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

Fichera, M; Romano, C; Castiglia, L; Failla, P; Ruberto, C; Amata, S; Greco, D; Cardoso, C; Fontés, M; Ragusa, A

Fichera, M; Romano, C; Castiglia, L; Failla, P; Ruberto, C; Amata, S; Greco, D; Cardoso, C; Fontés, M; Ragusa, A.

Affiliation

Fichera M; Laboratorio di Patologia Genetica, I.R.C.C.S., Oasi Maria SS, Troina, Italy. Mutations in brief no. 176. Online.

Hum Mutat ; 12(3): 214, 1998.

Article in En | MEDLINE | ID: mdl-10660327

Subject(s)

DNA Helicases; DNA-Binding Proteins/genetics; Mutation/genetics; Nuclear Proteins/genetics; Transcription Factors/genetics; alpha-Thalassemia/genetics; Genotype; Humans; Phenotype; Syndrome; X Chromosome/genetics; X-linked Nuclear Protein

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Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Nuclear Proteins / Alpha-Thalassemia / DNA Helicases / DNA-Binding Proteins / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 1998 Type: Article

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