Á lódáil...
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation at the level of the lamina lucida within the cutaneous basement-membrane zone. Classic lethal JEB (Herlitz type [H-JEB]; OMIM 226700) is frequently associated with premature-termination-codon...
Na minha lista:
| Main Authors: | , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
1997
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1715967/ https://ncbi.nlm.nih.gov/pubmed/9326326 |
| Clibeanna: |
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