Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
about
Oculocutaneous albinismOculocutaneous albinism type 4 is one of the most common types of albinism in Japan.Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting controlThe human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variationMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsMolecular basis of the extreme dilution mottled mouse mutation: a combination of coding and noncoding genomic alterationsGenomewide association study for onset age in Parkinson disease.Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.Oculocutaneous albinism.Distribution of oculocutaneous albinism in ZimbabweOculocutaneous albinism in an isolated Tonga community in Zimbabwe.Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.The pink-eyed dilution gene and the molecular pathogenesis of tyrosinase-positive albinism (OCA2).MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.Discovery of variants unmasked by hemizygous deletions.The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.BAP1 loss defines a new class of renal cell carcinoma.An intracellular anion channel critical for pigmentation.Albinism: modern molecular diagnosisScreening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.Clinical utility gene card for: Oculocutaneous albinism.Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinismAn intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African NegroidsIdentification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.Albinism and developmental delay: the need to test for 15q11-q13 deletion.Human melanocyte biology, toxicology, and pathology.Tyrosinase maturation through the mammalian secretory pathway: bringing color to life.Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani populationReport of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient.Does an Association between the Idiopathic Left-Sided Varicocele and Eye Colour Exist?Clinical and genetic aspects of Angelman syndrome.Phenotypic variability and genetic susceptibility to genomic disordersDisentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.
P2860
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P2860
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
description
1994 nî lūn-bûn
@nan
1994 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@ast
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@en
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@en-gb
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@nl
type
label
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@ast
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@en
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@en-gb
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@nl
prefLabel
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@ast
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@en
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@en-gb
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@nl
P2093
P3181
P1476
Mutations of the P gene in ocu ...... r-Willi syndrome plus albinism
@en
P2093
P304
P3181
P356
10.1056/NEJM199402243300803
P407
P577
1994-02-24T00:00:00Z