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http://purl.uniprot.org/citations/22125978http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22125978http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To identify the disease causing gene in a four generation consanguineous family in which eleven family members were suffering from Woolly hair/hypotrichosis phenotype.

Methods

Linkage analysis was carried out to identify the disease-causing gene in this family. Genomic DNA of all the available family members was genotyped for the microsatellite markers for all the known woolly hair/hypotrichosis loci.Automated DNA sequencing of the candidate gene was performed to identify the disease-causing mutation.

Results

By using homozygosity linkage analysis we have mapped the family on chromosome 3q27.3 with a two point LOD score of 4.04, Mutation screening of the LIPH gene revealed a homozygous c.659_660delTA deletion mutation segregating with the disease phenotype.

Conclusion

The results indicate that the c.659_660delTA mutation in the LIPH gene cause autosomal recessive WH/hypotrichosis phenotype in this family. This mutation has been reported in several Pakistani and Guyanese families suggesting a founder mutation in the LIPH gene in Indo-Pak sub-continent."xsd:string
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/author"Khaliq S."xsd:string
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/author"Shah S.H."xsd:string
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/author"Abid A."xsd:string
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/author"Shahid S."xsd:string
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/name"J Pak Med Assoc"xsd:string
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/pages"1060-1064"xsd:string
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/title"Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype."xsd:string
http://purl.uniprot.org/citations/22125978http://purl.uniprot.org/core/volume"61"xsd:string
http://purl.uniprot.org/citations/22125978http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/22125978
http://purl.uniprot.org/citations/22125978http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/22125978
http://purl.uniprot.org/uniprot/#_A2IBA6-mappedCitation-22125978http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22125978
http://purl.uniprot.org/uniprot/#_A2IBA8-mappedCitation-22125978http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22125978
http://purl.uniprot.org/uniprot/#_B4DPK4-mappedCitation-22125978http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22125978
http://purl.uniprot.org/uniprot/#_Q8WWY8-mappedCitation-22125978http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22125978
http://purl.uniprot.org/uniprot/Q8WWY8http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/22125978
http://purl.uniprot.org/uniprot/A2IBA8http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/22125978
http://purl.uniprot.org/uniprot/B4DPK4http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/22125978
http://purl.uniprot.org/uniprot/A2IBA6http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/22125978