Literature DB >> 25418799

Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.

B Singleton1, D Bansal2, N Varma3, R Das3, S Naseem3, U N Saikia4, P Malhotra5, S Varma5, R K Marwaha2, M-J King6, M Ahmed7.   

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Year:  2014        PMID: 25418799     DOI: 10.1111/cge.12527

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  2 in total

1.  Iron Metabolism, Hemolytic Anemia, and Thalassemia.

Authors:  Deepak Bansal; Ashutosh Lal
Journal:  Indian J Pediatr       Date:  2019-12-11       Impact factor: 1.967

2.  Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

Authors:  M Balasubramanian; J Hurst; S Brown; N J Bishop; P Arundel; C DeVile; R C Pollitt; L Crooks; D Longman; J F Caceres; F Shackley; S Connolly; J H Payne; A C Offiah; D Hughes; M J Parker; W Hide; T M Skerry
Journal:  Bone       Date:  2016-10-24       Impact factor: 4.398

  2 in total

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