A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).
Kamran-ul-Hassan Naqvi
S
S
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 44520, Pakistan.
Raza
S I
SI
Naveed
A K
AK
John
P
P
Ahmad
W
W
D001483:Base Sequence / Q000235:genetics; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree; D010641:Phenotype; D010740:Phospholipases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*
C504173:LIPC protein, human; D010740:Phospholipases; D008049:Lipase