Two-Exon Skipping within MLPH Is Associated with Coat Color Dilution in Rabbits

The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature

(2012) Bertrand Bed’hom et al.   BMC GENOMICS

Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a inOXCT1Gene: Study on Intermediates ofOXCT1Transcripts in Fibroblasts

(2012) Tomohiro Hori et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome

(2010) Samantha A. Brooks et al.   PLoS Genetics

Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison

(2009) F. Minvielle et al.   ANIMAL GENETICS

Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity

(2009) A David et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Griscelli syndrome: a model system to study vesicular trafficking

(2009) Mireille Van Gele et al.   Pigment Cell & Melanoma Research

A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken

(2008) Mohsen Vaez et al.   BMC GENETICS

Establishment of a new mismatch PCR-RFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India

(2008) L. QUADROS et al.   HAEMOPHILIA