Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient.
Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
Ghulam
G
Murtaza
Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
Sumaira
S
Siddiq
Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
Suliman
S
Khan
Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
Sofia
S
Hussain
Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan. Electronic address: mnaeemqau@gmail.com.
Muhammad
M
Naeem
D000328:Adult; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics*; D008297:Male; D016254:Mutagenesis, Insertional; D043266:Steryl-Sulfatase / Q000235:genetics*
C584039:STS protein, human; D043266:Steryl-Sulfatase