HAEMOPHAGOCYTICLYMPHOHISTIOCYTOSIS: AN INHERITED PRIMARY FORM AND A REACTIVE SECONDARY FORM
نویسندگان
چکیده
منابع مشابه
Molecular basis of an inherited form of incomplete achromatopsia.
Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nucleotide-gated (CNG) channel of cone photoreceptors have been associated with autosomal recessive achromatopsia. Here we analyze the molecular basis of achromatopsia in two siblings with residual cone function. Psychophysical and electroretinographic analyses show that the light sensitivity of the cone system is lowere...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 1995
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.1995.tb05386.x