Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.

Homozygous adhalin gene mutations were found in three patients from two consanguineous families with autosomal recessive childhood onset muscular dystrophy. Muscle biopsies from patients in each family showed complete absence of adhalin. Sequencing of adhalin cDNA prepared from skeletal muscle by re...

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Hlavní autoři: Kawai, H, Akaike, M, Endo, T, Adachi, K, Inui, T, Mitsui, T, Kashiwagi, S, Fujiwara, T, Okuno, S, Shin, S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC185739/
https://ncbi.nlm.nih.gov/pubmed/7657792
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