Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1

Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1

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http://www.wikidata.org/entity/Q24671930
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factorTCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding regionPrenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.Treacher Collins syndromeThe mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codonIdentification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case reportGenomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34Cytogenetic and clinical assessment of a family with treacher collins syndrome.A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.Encephalocraniocutaneous lipomatosis syndrome in a child: association with multiple high flow cerebral arteriovenous fistulae. Case report and review.John Hunter's contributions to teratology.
P2860

Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1

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http://www.wikidata.org/entity/Q24671930
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1993 nî lūn-bûn
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1993 թուականի Մայիսին հրատարակուած գիտական յօդուած
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1993 թվականի մայիսին հրատարակված գիտական հոդված
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1993年の論文
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1993年学术文章
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1993年学术文章
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1993年学术文章
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1993年学术文章
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1993年学术文章
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1993年學術文章
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Narrowing the position of the ...... satellite markers at 5q32-33.1
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Narrowing the position of the ...... satellite markers at 5q32-33.1
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Narrowing the position of the ...... satellite markers at 5q32-33.1
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Narrowing the position of the ...... satellite markers at 5q32-33.1
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Narrowing the position of the ...... satellite markers at 5q32-33.1
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Narrowing the position of the ...... satellite markers at 5q32-33.1
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