Report for Kubo R

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References (1)

Title : A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia -

Author(s) : Hamada K , Kubo R , Nishio D , Nakamura M

Ref : Eur J Dermatol , 24 :272 , 2014

PubMedID: 24722066

Gene_locus related to this paper: human-LIPH

Report for Kubo R

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References (1)

1. A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia