Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. Recently, we showed that mutations in the putative zinc finger transcription factor gene SALL1 cause TBS. To determine the spectrum of SALL1 mutations and to...

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Библиографические подробности
Главные авторы: Kohlhase, J, Taschner, P E, Burfeind, P, Pasche, B, Newman, B, Blanck, C, Breuning, M H, ten Kate, L P, Maaswinkel-Mooy, P, Mitulla, B, Seidel, J, Kirkpatrick, S J, Pauli, R M, Wargowski, D S, Devriendt, K, Proesmans, W, Gabrielli, O, Coppa, G V, Wesby-van Swaay, E, Trembath, R C, Schinzel, A A, Reardon, W, Seemanova, E, Engel, W
Формат: Artigo
Язык:Inglês
Опубликовано: 1999
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377753/
https://ncbi.nlm.nih.gov/pubmed/9973281
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