TY  - GEN
AU  - Aggarwal,Annu
AU  - Chandhok,Gursimran
AU  - Todorov,Theodor
AU  - Parekh,Saloni
AU  - Tilve,Sharada
AU  - Zibert,Andree
AU  - Bhatt,Mohit
AU  - Schmidt,Hartmut H-J
TI  - Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations
SN  - 1469-1809
PY  - 2015///0427
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Adolescent
KW  - Age of Onset
KW  - Alleles
KW  - Cation Transport Proteins
KW  - Child
KW  - Child, Preschool
KW  - Copper-Transporting ATPases
KW  - Exons
KW  - Female
KW  - Gene Frequency
KW  - Genetic Association Studies
KW  - Genotype
KW  - Geography, Medical
KW  - Hepatolenticular Degeneration
KW  - diagnosis
KW  - Humans
KW  - India
KW  - Introns
KW  - Male
KW  - Mutation
KW  - Polymorphism, Single Nucleotide
KW  - White People
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/ahg.12024
ER  -