Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

J T  den Dunnen; T  Kraayenbrink; M  van Schooneveld; E  van de Vosse; P T V M  de Jong; J B  ten Brink; E  Schuurman; N  Tijmes; G J B  van Ommen; A A B  Bergen; G  Andolfi; E  Montini; Y  Li; C  Oudet; H  Bolz; J  Kaplan; U  Orth; A  Gal; A  Hanauer; A M  Bardelli; C  Ayuso; F J  Diaz; P  Bitoun; V  Ventruto; A  Ballabio; B  Franco; K T  Hiriyanna; E L  Bingham; C  McHenry; H  Pawar; C  Coats; T  Darga; J E  Richards; P A  Sieving; L  Huopaniemi; A  Rantala; T  Rosenberg; N  Dahl; A  Wright; A  de la Chapelle; T  Alitalo; S  Lenzner; B  Brunner; S  Feil; B  Niesler; U  Schulz; A  Pinckers; A  Blankennagel; K  Ruether; U  Kellner; Retinoschisis Consortium

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

J T den Dunnen, T Kraayenbrink, M van Schooneveld, E van de Vosse, P T V M de Jong, J B ten Brink, E Schuurman, N Tijmes, G J B van Ommen, A A B Bergen, G Andolfi, E Montini, Y Li, C Oudet, H Bolz, J Kaplan, U Orth, A Gal, A Hanauer, A M BardelliC Ayuso, F J Diaz, P Bitoun, V Ventruto, A Ballabio, B Franco, K T Hiriyanna, E L Bingham, C McHenry, H Pawar, C Coats, T Darga, J E Richards, P A Sieving, L Huopaniemi, A Rantala, T Rosenberg, N Dahl, A Wright, A de la Chapelle, T Alitalo, S Lenzner, B Brunner, S Feil, B Niesler, U Schulz, A Pinckers, A Blankennagel, K Ruether, U Kellner, Retinoschisis Consortium

Clinicum

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Human Molecular Genetics
Volym	7
Sidor (från-till)	1185-1192
Antal sidor	8
ISSN	0964-6906
Status	Publicerad - 1998
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

118 Biovetenskaper

Citera det här

den Dunnen, J. T., Kraayenbrink, T., van Schooneveld, M., van de Vosse, E., de Jong, P. T. V. M., ten Brink, J. B., Schuurman, E., Tijmes, N., van Ommen, G. J. B., Bergen, A. A. B., Andolfi, G., Montini, E., Li, Y., Oudet, C., Bolz, H., Kaplan, J., Orth, U., Gal, A., Hanauer, A., ... Retinoschisis Consortium (1998). Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Human Molecular Genetics, 7, 1185-1192.

@article{50be3c0c993c4c8cb9d14384053f3448,

title = "Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)",

keywords = "YAC CONTIG, LOCALIZATION, RS, 118 Biological sciences, genetiikka",

author = "{den Dunnen}, {J T} and T Kraayenbrink and {van Schooneveld}, M and {van de Vosse}, E and {de Jong}, {P T V M} and {ten Brink}, {J B} and E Schuurman and N Tijmes and {van Ommen}, {G J B} and Bergen, {A A B} and G Andolfi and E Montini and Y Li and C Oudet and H Bolz and J Kaplan and U Orth and A Gal and A Hanauer and Bardelli, {A M} and C Ayuso and Diaz, {F J} and P Bitoun and V Ventruto and A Ballabio and B Franco and Hiriyanna, {K T} and Bingham, {E L} and C McHenry and H Pawar and C Coats and T Darga and Richards, {J E} and Sieving, {P A} and L Huopaniemi and A Rantala and T Rosenberg and N Dahl and A Wright and {de la Chapelle}, A and T Alitalo and S Lenzner and B Brunner and S Feil and B Niesler and U Schulz and A Pinckers and A Blankennagel and K Ruether and U Kellner and {Retinoschisis Consortium}",

year = "1998",

language = "English",

volume = "7",

pages = "1185--1192",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

}

den Dunnen, JT, Kraayenbrink, T, van Schooneveld, M, van de Vosse, E, de Jong, PTVM, ten Brink, JB, Schuurman, E, Tijmes, N, van Ommen, GJB, Bergen, AAB, Andolfi, G, Montini, E, Li, Y, Oudet, C, Bolz, H, Kaplan, J, Orth, U, Gal, A, Hanauer, A, Bardelli, AM, Ayuso, C, Diaz, FJ, Bitoun, P, Ventruto, V, Ballabio, A, Franco, B, Hiriyanna, KT, Bingham, EL, McHenry, C, Pawar, H, Coats, C, Darga, T, Richards, JE, Sieving, PA, Huopaniemi, L, Rantala, A, Rosenberg, T, Dahl, N, Wright, A, de la Chapelle, A, Alitalo, T, Lenzner, S, Brunner, B, Feil, S, Niesler, B, Schulz, U, Pinckers, A, Blankennagel, A, Ruether, K, Kellner, U & Retinoschisis Consortium 1998, 'Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)', Human Molecular Genetics, vol. 7, s. 1185-1192.

TY - JOUR

T1 - Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

AU - den Dunnen, J T

AU - Kraayenbrink, T

AU - van Schooneveld, M

AU - van de Vosse, E

AU - de Jong, P T V M

AU - ten Brink, J B

AU - Schuurman, E

AU - Tijmes, N

AU - van Ommen, G J B

AU - Bergen, A A B

AU - Andolfi, G

AU - Montini, E

AU - Li, Y

AU - Oudet, C

AU - Bolz, H

AU - Kaplan, J

AU - Orth, U

AU - Gal, A

AU - Hanauer, A

AU - Bardelli, A M

AU - Ayuso, C

AU - Diaz, F J

AU - Bitoun, P

AU - Ventruto, V

AU - Ballabio, A

AU - Franco, B

AU - Hiriyanna, K T

AU - Bingham, E L

AU - McHenry, C

AU - Pawar, H

AU - Coats, C

AU - Darga, T

AU - Richards, J E

AU - Sieving, P A

AU - Huopaniemi, L

AU - Rantala, A

AU - Rosenberg, T

AU - Dahl, N

AU - Wright, A

AU - de la Chapelle, A

AU - Alitalo, T

AU - Lenzner, S

AU - Brunner, B

AU - Feil, S

AU - Niesler, B

AU - Schulz, U

AU - Pinckers, A

AU - Blankennagel, A

AU - Ruether, K

AU - Kellner, U

AU - Retinoschisis Consortium

PY - 1998

Y1 - 1998

KW - YAC CONTIG

KW - LOCALIZATION

KW - RS

KW - 118 Biological sciences

KW - genetiikka

M3 - Article

SN - 0964-6906

VL - 7

SP - 1185

EP - 1192

JO - Human Molecular Genetics

JF - Human Molecular Genetics

ER -