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Mutations In Cgi-58, The Gene Encoding A New Protein Of The Esterase/Lipase/Thioesterase Subfamily, In Chanarin-Dorfman Syndrome
(Cell Press, 2001)
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We ...
Cnga3 Mutations In Hereditary Cone Photoreceptor Disorders
(Cell Press, 2001)
We recently showed that mutations in the CNGA3 gene encoding the alpha -subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the ...
X-Linked Recessive Inheritance Of Radial Ray Deficiencies In A Family With Four Affected Males
(Nature Publishing Group, 2001)
Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral ...
Dach: Genomic Characterization, Evaluation As A Candidate For Postaxial Polydactyly Type A2, And Developmental Expression Pattern Of The Mouse Homologue
(Academic Press Inc, 2001)
The gene DACH is a human homologue of Drosophila melanogaster dachshund (dac), which encodes a nuclear factor essential for determining cell fates in the eye, leg, and nervous system of the fly. To investigate possible ...
Spectrum Of Perforin Gene Mutations In Familial Hemophagocytic Lymphohistiocytosis
(Cell Press, 2001)
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes ...
The Mutational Spectrum Of Human Malignant Autosomal Recessive Osteopetrosis
(Oxford Univ Press, 2001)
Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogenous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently ...
Mutation Analysis Of The Entire Pkd1 Gene: Genetic And Diagnostic Implications
(Cell Press, 2001)
Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing ...