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A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families
2016
Farooq Ahmad
Muhammad Ansar
Sabba Mehmood
A. Izoduwa
Kwanghyuk Lee
Abdul Nasir
Muhammad Abrar
Asmat Ullah
Abdul Aziz
J. D. Smith
J. Shendure
M.J. Bamshad
D.A. Nicekrson
Regie Lyn P. Santos-Cortez
Suzanne M. Leal
Wasim Ahmad
Keywords:
Dermatology
Congenital ichthyosis
Consanguinity
Missense mutation
PNPLA1 gene
Peptide sequence
Medicine
Genetics
Ichthyosiform erythroderma
Dominance (genetics)
Gene
Mutation
Correction
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