Spectrum ofSMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease-Reference-Cited by-同舟云学术

Spectrum ofSMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

Published:2016-06-24 Issue:10 Volume:170 Page:2719-2730
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ranganath Prajnya¹²,Matta Divya²,Bhavani Gandham SriLakshmi³,Wangnekar Savita²,Jain Jamal Mohammed Nurul²,Verma Ishwar C.⁴,Kabra Madhulika⁵,Puri Ratna Dua⁴,Danda Sumita⁶,Gupta Neerja⁵,Girisha Katta M.³,Sankar Vaikom H.⁷,Patil Siddaramappa J.⁸,Ramadevi Akella Radha⁹,Bhat Meenakshi¹⁰,Gowrishankar Kalpana¹¹,Mandal Kausik¹²,Aggarwal Shagun¹²,Tamhankar Parag Mohan¹³,Tilak Preetha¹⁴,Phadke Shubha R.¹²,Dalal Ashwin²

Affiliation:

1. Department of Medical Genetics; Nizam's Institute of Medical Genetics; Hyderabad Telangana India

2. Diagnostics Division; Centre for DNA Fingerprinting and Diagnostics; Hyderabad Telangana India

3. Department of Medical Genetics; Kasturba Medical College, Manipal University; Manipal Karnataka India

4. Center of Medical Genetics; Sir GangaRam Hospital; New Delhi India

5. Genetics Unit, Department of Pediatrics; All India Institute of Medical Sciences; New Delhi India

6. Department of Clinical Genetics; Christian Medical College and Hospital; Vellore Tamil Nadu India

7. Genetic Clinic, Department of Pediatrics; SAT Hospital, Government Medical College; Thiruvananthapuram Kerala India

8. Clinical Genetics Unit; Mazumdhar Shaw Medical Center; Bengaluru Karnataka India

9. Division of Genetics; Rainbow Children's Hospital; Hyderabad Telangana India

10. Centre for Human Genetics; Bengaluru Karnataka India

11. Department of Medical Genetics; CHILDS Trust Medical Research Foundation, Kanchi Kamakoti CHILDS Trust Hospital; Chennai Tamil Nadu India

12. Department of Medical Genetics; Sanjay Gandhi Postgraduate Institute of Medical Sciences; Lucknow Uttar Pradesh India

13. Genetic Research Centre; National Institute for Research in Reproductive Health; Mumbai Maharashtra India

14. Division of Human Genetics; St. John's Medical College; Bengaluru Karnataka India

Funder

Indian Council of Medical Research (ICMR)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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