Gonadal mosaicism as a rare cause of autosomal recessive inheritance-Reference-Cited by-同舟云学术

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Gonadal mosaicism as a rare cause of autosomal recessive inheritance

Published:2013-04-22 Issue:3 Volume:85 Page:278-281
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Anazi S.¹,Al‐Sabban E.²,Alkuraya F.S.¹³

Affiliation:

1. Department of Genetics

2. Division of Nephrology, Department of PediatricsKing Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

3. Department of Anatomy and Cell Biology, College of MedicineAlfaisal University Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12156

Reference10 articles.

1. HUMAN TUMOR SUPPRESSOR GENES

2. A novel mechanism for thalassaemia intermedia

3. De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling

4. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome;Hearn T;Nat Genet,2002

5. Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles

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