Llwytho...
NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes
Two familial and seven sporadic patients with neurofibromatosis 1—who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene—were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones b...
Wedi'i Gadw mewn:
Prif Awduron: | , , , , , , , , , |
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Fformat: | Artigo |
Iaith: | Inglês |
Cyhoeddwyd: |
The American Society of Human Genetics
2000
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Pynciau: | |
Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288315/ https://ncbi.nlm.nih.gov/pubmed/10631140 |
Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
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