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Missense mutations identified in the human DAZL gene. The position of each putative mutation in the DAZL gene sequence is relative to the gene sequence as previously detailed [28]. |
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| Position |
Exon |
Change |
Occurrence |
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|
|
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| Sex (Population) |
Genotype |
Phenotype |
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|
|
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| 8169 |
2 |
Pro6 → His6 |
Female (ovarian failure/menopause group) |
Heterozygous |
Spontaneous early menopause at age 45. 3 children previously. |
| 8182 |
2 |
Asn10 → Cys10 |
Male (infertile male group) |
Homozygous |
Azoospermia |
| Female (ovarian failure/menopause group) |
Heterozygous |
Familial early menopause at age 44. 4 children previously. |
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| 8262 |
2 |
Ile37 → Ala37 |
Female (ovarian failure/menopause group) |
Heterozygous |
Spontaneous early menopause at age 43. 1 child previously. |
| 9740 |
5 |
Arg115 → Gly115 |
Female (premature ovarian failure group) |
Homozygous |
Spontaneous premature ovarian failure at age 34. 0 children previously. |
Tung et al. Reproductive Biology and Endocrinology 2006 4:40 doi:10.1186/1477-7827-4-40 |
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