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Molecular analyses of a tyrosinase-negative albino family.

Sequence analysis of the tyrosinase coding region from an individual with tyrosinase-negative oculocutaneous albinism revealed that the patient was a compound heterozygote. One allele carried a C--> A single-base substitution in codon 355 of exon 3, and the other carried a two-nucleotide deletion...

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Bibliografiska uppgifter
Huvudupphovsmän: Park, K C, Chintamaneni, C D, Halaban, R, Witkop, C J, Kwon, B S
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1993
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682201/
https://ncbi.nlm.nih.gov/pubmed/8430701
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