Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1.

Ray, Kunal; Chaki, Moumita; Sengupta, Mainak

Ray, Kunal; Chaki, Moumita; Sengupta, Mainak.

Affiliation

Ray K; Indian Institute of Chemical Biology, Molecular and Human Genetics Division, 4, Raja S. C. Mullick Road, Jadavpur, 700 032, Kolkata, India. kunalray@gmail.com

Hum Genet ; 122(5): 555, 2007 Dec.

Article in En | MEDLINE | ID: mdl-18383608

Subject(s)

Albinism, Oculocutaneous/genetics; Monophenol Monooxygenase/genetics; Mutation, Missense; Albinism, Oculocutaneous/classification; Albinism, Oculocutaneous/enzymology; Amino Acid Substitution; Codon/genetics; Humans

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Collection: 01-internacional Database: MEDLINE Main subject: Albinism, Oculocutaneous / Monophenol Monooxygenase / Mutation, Missense Limits: Humans Language: En Journal: Hum Genet Year: 2007 Document type: Article Affiliation country: India Country of publication: Germany

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