Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
Meindl
A
A
Kinderpoliklinik der Universität, Abteilung für Pädiatrische Genetik, München, Germany.
Lorenz
B
B
Achatz
H
H
Hellebrand
H
H
Schmitz-Valckenberg
P
P
Meitinger
T
T
D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D015792:Retinal Dysplasia / Q000235:genetics*; D017422:Sequence Analysis, DNA; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics*
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins