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Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a common birth defect for which few causative genes have been identified. Several candidate regions containing genes necessary for normal diaphragm development have been identified, including a 4–5 Mb deleted region at chromosome 1q41–1q42 from which the caus...

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Autors principals: Slavotinek, AM, Moshrefi, A, LopezJimenez, N, Chao, R, Mendell, A, Shaw, GM, Pennacchio, LA, Bates, MD
Format: Artigo
Idioma:Inglês
Publicat: 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2874832/
https://ncbi.nlm.nih.gov/pubmed/19459883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2009.01182.x
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