Literature DB >> 8401541

Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.

R Hirschhorn1, A S Chen, A Israni, D R Yang, M L Huie.   

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Year:  1993        PMID： 8401541     DOI： 10.1002/humu.1380020415

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

1.  Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Authors:  Lawrence R Shiow; Kenneth Paris; Matthew C Akana; Jason G Cyster; Ricardo U Sorensen; Jennifer M Puck
Journal:  Clin Immunol       Date:  2008-12-20       Impact factor: 3.969

2.  Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

Authors:  R Hirschhorn; D R Yang; A Israni; M L Huie; D R Ownby
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

3.  TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Authors:  M Dasouki; A Jabr; G AlDakheel; F Elbadaoui; A M Alazami; B Al-Saud; R Arnaout; H Aldhekri; I Alotaibi; H Al-Mousa; A Hawwari
Journal:  Clin Exp Immunol       Date:  2020-07-21       Impact factor: 4.330

4.  Disease-specific induced pluripotent stem cells.

Authors:  In-Hyun Park; Natasha Arora; Hongguang Huo; Nimet Maherali; Tim Ahfeldt; Akiko Shimamura; M William Lensch; Chad Cowan; Konrad Hochedlinger; George Q Daley
Journal:  Cell       Date:  2008-08-07       Impact factor: 41.582

5.  The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development.

Authors:  Michael Tsui; Weixian Min; Stephanie Ng; Kerry Dobbs; Luigi D Notarangelo; Yigal Dror; Eyal Grunebaum
Journal:  Front Immunol       Date:  2021-10-28       Impact factor: 7.561
  5 in total

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