Associated Papers
Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
Dutta T et al.
Molecular Biology Reports, 2024
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M et al.
Scientific Reports, 2017
28266639 (PubMed )
Supplement: srep44185-s1.pdf
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
Sengupta M et al.
The British Journal of Dermatology, 2010
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
Johanson HC et al.
Journal of Human Genetics, 2010
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2).
Wattanasirichaigoon D et al.
Journal of Dermatological Science, 2008
SLC45A2 variations in Indian oculocutaneous albinism patients.
Sengupta M et al.
Molecular Vision, 2007
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
Suzuki T et al.
The Journal of Investigative Dermatology, 2003
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).
Kato A et al.
Journal of Dermatological Science, 2003
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
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