Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Richard A. Spritz, Seung Taek Lee, Kazuyoshi Fukai, Karen Brondum-Nielsen, David Chitayat, Mark H. Lipson, Maria A. Musarella, Ada Rosenmann, Richard Weleber

Research output: Contribution to journalArticle

19 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)175-177
Number of pages3
JournalHuman Mutation
Volume10
Issue number2
DOIs
StatePublished - 1997

Fingerprint

Oculocutaneous Albinism
Consanguinity
Membrane Transport Proteins
Preschool Children
Heterozygote
Carrier Proteins
Membrane Proteins
Mutation
Genes
Oculocutaneous albinism type 2

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). / Spritz, Richard A.; Lee, Seung Taek; Fukai, Kazuyoshi; Brondum-Nielsen, Karen; Chitayat, David; Lipson, Mark H.; Musarella, Maria A.; Rosenmann, Ada; Weleber, Richard.

In: Human Mutation, Vol. 10, No. 2, 1997, p. 175-177.

Research output: Contribution to journalArticle

Spritz, RA, Lee, ST, Fukai, K, Brondum-Nielsen, K, Chitayat, D, Lipson, MH, Musarella, MA, Rosenmann, A & Weleber, R 1997, 'Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)', Human Mutation, vol. 10, no. 2, pp. 175-177. https://doi.org/10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X
Spritz, Richard A. ; Lee, Seung Taek ; Fukai, Kazuyoshi ; Brondum-Nielsen, Karen ; Chitayat, David ; Lipson, Mark H. ; Musarella, Maria A. ; Rosenmann, Ada ; Weleber, Richard. / Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). In: Human Mutation. 1997 ; Vol. 10, No. 2. pp. 175-177.
@article{855699fba4744c708c196a911bf975b9,
title = "Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)",
author = "Spritz, {Richard A.} and Lee, {Seung Taek} and Kazuyoshi Fukai and Karen Brondum-Nielsen and David Chitayat and Lipson, {Mark H.} and Musarella, {Maria A.} and Ada Rosenmann and Richard Weleber",
year = "1997",
doi = "10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X",
language = "English (US)",
volume = "10",
pages = "175--177",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

AU - Spritz, Richard A.

AU - Lee, Seung Taek

AU - Fukai, Kazuyoshi

AU - Brondum-Nielsen, Karen

AU - Chitayat, David

AU - Lipson, Mark H.

AU - Musarella, Maria A.

AU - Rosenmann, Ada

AU - Weleber, Richard

PY - 1997

Y1 - 1997

UR - http://www.scopus.com/inward/record.url?scp=0030790959&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030790959&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X

DO - 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X

M3 - Article

C2 - 9259203

AN - SCOPUS:0030790959

VL - 10

SP - 175

EP - 177

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 2

ER -