A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26
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چکیده
منابع مشابه
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.
T he term hereditary spastic paraplegia (HSP) is used to describe a group of clinically and genetically heterogeneous disorders in which the defining clinical feature is progressive spasticity and weakness of the lower limbs. The phenotype is traditionally classified as ‘‘pure’’ when symptoms and signs are generally confined to those of a progressive spastic paraparesis, or ‘‘complicated’’ when...
متن کاملA new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally, linkage of the disease to three loci on 1p, 1q, and 6p has been described. However, the majority of cases are still uncharacterised. We have performed linkage analysis in a large nuclear ARRP famil...
متن کاملA novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3.
G enetic conditions affecting hair structure or the hair growth cycle may be isolated or they may occur as part of complex syndromes with associated abnormalities of other ectodermal appendages. Defective hair structure caused by mutations in key hair structural proteins can result in severe alopecia. The best characterised conditions at the molecular level in this category are monilethrix (MIM...
متن کاملLETTER TO JMG A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15
T he cerebellar ataxias are a heterogeneous group of neurodegenerative disorders, characterised by symptoms and signs of cerebellar degeneration, pyramidal and extrapyramidal features, and variable polyneuropathy. Prominent clinical features are signs of cerebellar ataxia, such as uncoordinated gait and uncontrolled co-ordination of hand, speech, and eye movements, while (extra) pyramidal signs...
متن کاملA new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.
T he cerebellar ataxias are a heterogeneous group of neurodegenerative disorders, characterised by symptoms and signs of cerebellar degeneration, pyramidal and extrapyramidal features, and variable polyneuropathy. Prominent clinical features are signs of cerebellar ataxia, such as uncoordinated gait and uncontrolled co-ordination of hand, speech, and eye movements, while (extra) pyramidal signs...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1086/302753