Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Albert de laChapelle"'
Autor:
Taina T. Nieminen, Sandya Liyanarachchi, Daniel F. Comiskey Jr., Yanqiang Wang, Wei Li, Isabella V. Hendrickson, Pamela Brock, Albert de laChapelle, Huiling He
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Background We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS). Methods Genome‐wide linkage, whole‐genome sequencing (WGS), Sanger sequencing, RT‐PCR, and ToPO TA cloning analyse
Externí odkaz:
https://doaj.org/article/1f3b9fc61a8f499dbeb9df4237588bba
Publikováno v:
Scandinavian journal of haematology. Supplementum. 45
A reciprocal apparently balanced translocation between chromosomes 2 and 11, t(2;11) (p21;q23), was the sole chromosome abnormality in mitoses studied from 2 patients because of suspected acute leukaemia. The first patient, a 66 year-old male who had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e9f9e02f4a255158b3c844565f97909
https://pubmed.ncbi.nlm.nih.gov/3457447
https://pubmed.ncbi.nlm.nih.gov/3457447