Homozygosity mapping reveals founder   SEC23B  ‐ Y462C  mutations in Indian congenital dyserythropoietic anemia type  II | Zendy

Singleton B. | Zendy; Bansal D. | Zendy; Varma N. | Zendy; Das R. | Zendy; Naseem S. | Zendy; Saikia U.N. | Zendy; Malhotra P. | Zendy; Varma S. | Zendy; Marwaha R.K. | Zendy; King M.J. | Zendy; Ahmed M. | Zendy

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Homozygosity mapping reveals founder SEC23B ‐ Y462C mutations in Indian congenital dyserythropoietic anemia type II

Author(s) -

Singleton B.,

Bansal D.,

Varma N.,

Das R.,

Naseem S.,

Saikia U.N.,

Malhotra P.,

Varma S.,

Marwaha R.K.,

King M.J.,

Ahmed M.

Publication year - 2015

Publication title -

clinical genetics

Language(s) - Slovenian

Resource type - Journals

SCImago Journal Rank - 1.543

H-Index - 102

eISSN - 1399-0004

pISSN - 0009-9163

DOI - 10.1111/cge.12527

Subject(s) - hematology , medicine , pediatrics

F1P1 V F 8 6.2 8.8 390 2 LM 1:1 ND CDA II band 3 Y462C/Y462C F2P1 V M 9 5.5 12.5 384 <0.2 LM 1:4 ND CDA II band 3 Y462C/Y462C F3P1 V M 6 10.8 6.4 368 0.4 LM 1:2 POS CDA II band 3 Y462C/Y462C F4P1 V M < 1 7.5 4.1 311 2.5 LM, EM 1:5 ND CDA II band 3 Y462C/Y462C F4P2 V M < 1 7.1 4.1 282 3.3 LM, EM 1:3 ND ND Y462C/Y462C F5P1a V M 21 8.4 3.2 301 2.6 LM, EM 1:3 ND CDA II band 3 Y462C/Y462C F6P1a V F 16 9.1 4.1 288 2.9 LM, EM 1:3 ND CDA II band 3 Y462C/Y462C F7P1a V F 17 7.6 5.4 221 4.2 LM, EM 1:2 ND CDA II band 3 Y462C/Y462C F8P1 V M 7 7 5.9 243 2 LM, EM 1:3 ND ND Y462C/Y462C F9P1 V M 6 5.3 6.1 210 1.6 LM, EM 1:3 ND ND Y462C/Y462C F10P1 V F 2 10.7 11 279 1 LM, EM 1:2.5 POS ND Y462C/Y462C F11P1 V M 7 6.2 7.1 289 1.2 LM, EM 1:4 ND ND Y462C/Y462C F12P1 V M 5 3.7 12.1 276 2 LM 1:1 POS ND Y462C/Y462C F13P1 V F 10 8.2 10.2 588 2.8 LM 1:3 ND ND Y462C/Y462C F13P2 V M 26 9.8 8.3 243 3.4 LM 1:4 ND ND Y462C/Y462C F14P1 V F 14 6.8 2.4 157 1.8 LM 1:4 ND ND Y462C/Y462C F15P1 V F 9 7 13.5 200 0.5 LM 1:1.2 POS ND Y462C/Y462C F16P1 V/O M 1 6.5 5.7 271 ND LM ND ND ND Y462C/WT F17P1 V/O M 1 7 7.8 431 ND LM, EM 1:4.5 ND ND Y462C/WT F18P1 V M 2 7.6 18.8 290 6.5 LM, EM 1:1 ND ND ND F19P1 V M 13 10.9 8.1 256 0.4 LM, EM 1:2 POS ND ND F20P1 V F 1 6.5 11.3 285 4.5 LM, EM 1:1 POS ND ND F21P1 V M 5 7.8 10.8 559 2.8 LM 1:3.5 POS ND ND F22P1 V F 6 9.1 15.9 340 3.5 LM NA POS ND ND F23P1 O F 10 6.4 4.9 459 3 LM 1:2 POS CDA II band 3 WT/WT F24P1 O M 4 7.5 7.6 335 NA LM 1:2.5 ND CDA II band 3 WT/WT F24P2 O M 4 6.3 11.7 439 1.5 LM, EM 1:3.5 POS CDA II band 3 WT/WT F25P1 O F 4 6 4.4 330 NA LM, EM 1:4 POS CDA II band 3 WT/WT

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