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A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32

✍ Scribed by Sergiu C. Blumen; Simon Bevan; Saif Abu-Mouch; David Negus; Michael Kahana; Rifka Inzelberg; Aziz Mazarib; Ahmad Mahamid; Ralph L. Carasso; Hanoch Slor; David Withers; Puiu Nisipeanu; Ruth Navon; Evan Reid


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
388 KB
Volume
54
Category
Article
ISSN
0364-5134

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A novel locus for pure recessive heredit
✍ Inge A. Meijer; Patrick Cossette; Julie Roussel; Melanie Benard; Sylvie Toupin; πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 218 KB

## Abstract The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by progressive lower‐limb spasticity. In this study, we performed linkage analysis on an autosomal recessive pure HSP family and mapped the disease to chromosome 10q

Novel locus for autosomal dominant pure
✍ Enza Maria Valente; Francesco Brancati; Viviana Caputo; Enrico Bertini; Clarice πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 93 KB πŸ‘ 1 views

Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. W

A fourth locus for hereditary hemorrhagi
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## Abstract Hereditary hemorrhagic telangiectasia (HHT) is a genetically and clinically heterogeneous multisystem vascular dysplasia. Mutations of the endoglin and __ACVRL1__ genes are known to cause HHT. However, existence of HHT families in which linkage to these genes has been excluded has sugge