Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.

Aziz, Abdul; Khan, Saadullah; Zimri, Faridullah Khan; Muhammad, Noor; Rashid, Sajid; Ahmad, Wasim

Aziz, Abdul; Khan, Saadullah; Zimri, Faridullah Khan; Muhammad, Noor; Rashid, Sajid; Ahmad, Wasim.

Afiliación

Aziz A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan.
Irfanullah; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan.
Khan S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan.
Zimri FK; National Institute of Rehabilitation Medicine (NIRM), Islamabad, Pakistan.
Muhammad N; Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, KPK, Pakistan.
Rashid S; National Center for Bioinformatics, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan.
Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan. Electronic address: wahmad@qau.edu.pk.

Gene ; 534(2): 265-71, 2014 Jan 25.

Article en En | MEDLINE | ID: mdl-24211389

Asunto(s)

Genes Recesivos; Deformidades Congénitas de la Mano/genética; Deformidades Congénitas de las Extremidades/genética; Proteínas Proto-Oncogénicas/genética; Proteínas Wnt/genética; Sitios de Unión; Consanguinidad; Femenino; Ligamiento Genético; Genotipo; Homocigoto; Humanos; Masculino; Fenotipo; Análisis de Secuencia de ADN/métodos; Eliminación de Secuencia

Palabras clave

AER; BLAST; Basic Local Alignment Search Tool; DLX5; Deletion and duplication mutations; EDTA; Ethylene diamine tetra acetic acid; FZD; LGA; Lamarckian genetic algorithm; PCR; PDB; PMDB; Polymerase Chain Reaction; Protein Data Bank; Protein Model Database; RMSD; RT-PCR; Reverse transcription polymerase chain reaction; Root-mean-square deviation; SHFM; SHFM6; Split hand foot malformation; TP63; WNT10B; WNT10B gene; apical ectodermal ridge; base pair; bp; cDNA; complementary DNA; del; deletion; distal-less homeobox 5; dup; duplication; frameshift; frizzled; fs; tumor protein p63; wingless-type MMTV integration site family, member 10B

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deformidades Congénitas de la Mano / Proteínas Proto-Oncogénicas / Deformidades Congénitas de las Extremidades / Proteínas Wnt / Genes Recesivos Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Gene Año: 2014 Tipo del documento: Article País de afiliación: Pakistán

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