The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region

M. Wijker; M. J. Ligtenberg; F. Schoute; J. C. Defesche; G. Pals; P. A. Bolhuis; H. H. Ropers; T. J. Hulsebos; F. H. Menko; B. A. van Oost

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region

M. Wijker, M. J. Ligtenberg, F. Schoute, J. C. Defesche, G. Pals, P. A. Bolhuis, H. H. Ropers, T. J. Hulsebos, F. H. Menko, B. A. van Oost

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Abstract

Bullous dystrophy, hereditary macular type (McKusick 302000), is an X-linked disorder and was originally described in a single kindred in the Netherlands by Mendes da Costa and Van der Valk in 1908. To determine the location of the bullous dystrophy gene, segregation studies were performed in this family and in a recently described Italian family. Using informative polymorphic markers, the gene could initially be localized on the Xq27-q28 region. No recombinants were noted with loci in Xq27.3-q28. Fine mapping places the bullous dystrophy locus distal to DXS102 (Xq26.3) in the Italian family and distal to DXS998 (Xq27.3) in the Dutch family

Original language	English
Pages (from-to)	1096-1100
Journal	American journal of human genetics
Volume	56
Issue number	5
Publication status	Published - 1995

Cite this

@article{448e5037e33d43518b5130f4d207de48,

title = "The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region",

abstract = "Bullous dystrophy, hereditary macular type (McKusick 302000), is an X-linked disorder and was originally described in a single kindred in the Netherlands by Mendes da Costa and Van der Valk in 1908. To determine the location of the bullous dystrophy gene, segregation studies were performed in this family and in a recently described Italian family. Using informative polymorphic markers, the gene could initially be localized on the Xq27-q28 region. No recombinants were noted with loci in Xq27.3-q28. Fine mapping places the bullous dystrophy locus distal to DXS102 (Xq26.3) in the Italian family and distal to DXS998 (Xq27.3) in the Dutch family",

author = "M. Wijker and Ligtenberg, {M. J.} and F. Schoute and Defesche, {J. C.} and G. Pals and Bolhuis, {P. A.} and Ropers, {H. H.} and Hulsebos, {T. J.} and Menko, {F. H.} and {van Oost}, {B. A.}",

year = "1995",

language = "English",

volume = "56",

pages = "1096--1100",

journal = "American journal of human genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

}

TY - JOUR

T1 - The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region

AU - Wijker, M.

AU - Ligtenberg, M. J.

AU - Schoute, F.

AU - Defesche, J. C.

AU - Pals, G.

AU - Bolhuis, P. A.

AU - Ropers, H. H.

AU - Hulsebos, T. J.

AU - Menko, F. H.

AU - van Oost, B. A.

PY - 1995

Y1 - 1995

N2 - Bullous dystrophy, hereditary macular type (McKusick 302000), is an X-linked disorder and was originally described in a single kindred in the Netherlands by Mendes da Costa and Van der Valk in 1908. To determine the location of the bullous dystrophy gene, segregation studies were performed in this family and in a recently described Italian family. Using informative polymorphic markers, the gene could initially be localized on the Xq27-q28 region. No recombinants were noted with loci in Xq27.3-q28. Fine mapping places the bullous dystrophy locus distal to DXS102 (Xq26.3) in the Italian family and distal to DXS998 (Xq27.3) in the Dutch family

AB - Bullous dystrophy, hereditary macular type (McKusick 302000), is an X-linked disorder and was originally described in a single kindred in the Netherlands by Mendes da Costa and Van der Valk in 1908. To determine the location of the bullous dystrophy gene, segregation studies were performed in this family and in a recently described Italian family. Using informative polymorphic markers, the gene could initially be localized on the Xq27-q28 region. No recombinants were noted with loci in Xq27.3-q28. Fine mapping places the bullous dystrophy locus distal to DXS102 (Xq26.3) in the Italian family and distal to DXS998 (Xq27.3) in the Dutch family

M3 - Article

C2 - 7726164

SN - 0002-9297

VL - 56

SP - 1096

EP - 1100

JO - American journal of human genetics

JF - American journal of human genetics

IS - 5

ER -