Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Malavika
M
Hebbar
Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore​, Karnataka, India.
Harsha
H
Prasada L
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.
Aneek Das
AD
Bhowmik
Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
Daniel
D
Trujillano
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Anju
A
Shukla
Department of Pathology, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India.
Shrijeet
S
Chakraborti
Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
Krishna Kumar
KK
Kandaswamy
Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany.|Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Mecklenburg-Vorpommern, Germany.
Arndt
A
Rolfs
Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore​, Karnataka, India.
Nutan
N
Kamath
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.
Ashwin
A
Dalal
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
Stephanie
S
Bielas
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Katta Mohan
KM
Girisha
D002352:Carrier Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D052556:Niemann-Pick Disease, Type C / Q000235:genetics*; D017384:Sequence Deletion; D033921:Vesicular Transport Proteins; D000073359:Exome Sequencing
D002352:Carrier Proteins; D006023:Glycoproteins; C104585:NPC2 protein, human; D033921:Vesicular Transport Proteins