A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.

Shi, Xiuyan; Ji, Chunyan; Cao, Lihua; Wu, Yuhong; Shang, Yuyang; Wang, Wei; Luo, Yang

Shi, Xiuyan; Ji, Chunyan; Cao, Lihua; Wu, Yuhong; Shang, Yuyang; Wang, Wei; Luo, Yang.

Affiliation

Shi X; The Research Center for Medical Genomics, Key Laboratory of Cell Biology, Ministry of Public Health and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang 110001, China.

Gene ; 532(2): 297-301, 2013 Dec 15.

Article in En | MEDLINE | ID: mdl-24055421

Subject(s)

Codon, Nonsense; Homeodomain Proteins/genetics; RNA Splice Sites; Syndactyly/genetics; Transcription Factors/genetics; Animals; Base Sequence; Bone Matrix/abnormalities; DNA Mutational Analysis; Genetic Association Studies; Homeodomain Proteins/metabolism; Humans; Mice; NIH 3T3 Cells; Pedigree; Promoter Regions, Genetic; Protein Binding; Receptor, EphA7/genetics; Transcription Factors/metabolism; Transcription, Genetic

Key words

HOX; HOXD13; Homeodomain; Limb malformation; Mut F; Mut R; Mutational screening; OMIM; Online Mendelian Inheritance in Man; PVDF; RT-PCR; SDS; SPD; Syndactyly; homeobox gene D13; homeobox-containing; mutation forward; mutation reverse; polyvinylidene difluoride; reverse transcription-polymerase chain reaction; sodium dodecyl sulfate; synpolydactyly

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Syndactyly / Homeodomain Proteins / Codon, Nonsense / RNA Splice Sites Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Gene Year: 2013 Document type: Article Affiliation country: China Country of publication: Netherlands

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